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4a-hydroxytetrahydrobiopterin dehydratase deficiency
Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin.
6,7-dihydropteridine reductase deficiency
Neopterin and biopterin levels in patients with atypical forms of phenylketonuria.
6,7-dihydropteridine reductase deficiency
[Comparative effects of different inhibitors of phenylalanine hydroxylase and dihydropteridine reductase. In vivo and in vitro study in rats]
6-pyruvoyltetrahydropterin synthase deficiency
Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China.
Acquired Immunodeficiency Syndrome
Discovery of a Specific Inhibitor of Pyomelanin Synthesis in Legionella pneumophila.
Acquired Immunodeficiency Syndrome
Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria.
acyl-coa dehydrogenase deficiency
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Amyotrophic Lateral Sclerosis
Drug S-oxidation and phenylalanine hydroxylase: a biomarker for neurodegenerative susceptibility in Parkinson's disease and amyotrophic lateral sclerosis.
Amyotrophic Lateral Sclerosis
Phenylalanine hydroxylase: A biomarker of disease susceptibility in Parkinson's disease and Amyotrophic lateral sclerosis.
Anemia, Sickle Cell
Maternal genetic disorders and fetal development.
Ataxia
Machado-Joseph disease is genetically different from Holguin dominant ataxia (SCA2).
Bone Diseases, Metabolic
A bone mineralization defect in the Pahenu2 model of classical phenylketonuria involves compromised mesenchymal stem cell differentiation.
Bone Diseases, Metabolic
A New View of Bone Loss in Phenylketonuria.
Bone Diseases, Metabolic
Mesenchymal stem cell energy deficit and oxidative stress contribute to osteopenia in the Pahenu2 classical PKU mouse.
Bone Diseases, Metabolic
Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency.
Carcinoma, Hepatocellular
Activation of phenylalanine hydroxylase expression following genomic DNA transfection of hepatoma cells.
Carcinoma, Hepatocellular
Amplification and expression of phenylalanine hydroxylase in mouse erythroleukemia cells.
Carcinoma, Hepatocellular
BWTG3 hepatoma cells can acquire phenylalanine hydroxylase, cystathionine synthase and CPS-I without genetic manipulation, but activation of the silent OTC gene requires cell fusion with hepatocytes.
Carcinoma, Hepatocellular
Cell density dependent regulation of phenylalanine hydroxylase activity in hepatoma cells. Evidence for both an active and inactive enzyme form.
Carcinoma, Hepatocellular
Constancy of expression of the protein kinase A regulatory subunit R1 alpha in hepatoma cell lines of different phenotypes.
Carcinoma, Hepatocellular
Control of phenylalanine hydroxylase synthesis in tissue culture by serum and insulin.
Carcinoma, Hepatocellular
Correlation of phenylalanine hydroxylase activity with cell density in cultured hepatoma cells.
Carcinoma, Hepatocellular
DNA-mediated restoration of phenylalanine hydroxylase gene expression in enzyme-deficient derivatives of enzyme-constitutive mouse cell hybrids.
Carcinoma, Hepatocellular
Effect of serum on phenylalanine hydroxylase levels in cultured hepatoma cells.
Carcinoma, Hepatocellular
Epigenetic activation of phenylalanine hydroxylase in mouse erythroleukemia cells by the cytoplast of rat hepatoma cells.
Carcinoma, Hepatocellular
Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model.
Carcinoma, Hepatocellular
Genetics of mammalian phenylalanine hydroxylase system. IV. Evidence of phenylalanine hydroxylase in a cultured human hepatoma cell line.
Carcinoma, Hepatocellular
Genetics of the mammalian phenylalanine hydroxylase system. II. Immunological and two-dimensional gel electrophoretic studies of phenylalanine hydroxylase in cultured normal and mutant rat hepatoma cells.
Carcinoma, Hepatocellular
Genetics of the mammalian phenylalanine hydroxylase system: I. Isolation of phenylalanine hydroxylase-deficient tyrosine auxotrophs from rat hepatoma cells.
Carcinoma, Hepatocellular
Glucocorticoid stimulation of tetrahydrobiopterin levels and phenylalanine hydroxylase activity in rat hepatoma cells.
Carcinoma, Hepatocellular
Hydrocortisone induction of phenylalanine hydroxylase isozymes in cultured hepatoma cells.
Carcinoma, Hepatocellular
Immunocytochemical identification of phenylalanine hydroxylase and albumin in cultured hepatoma cells and isolated rat hepatocytes.
Carcinoma, Hepatocellular
Isolation and sequence of a cDNA clone which contains the complete coding region of rat phenylalanine hydroxylase. Structural homology with tyrosine hydroxylase, glucocorticoid regulation, and use of alternate polyadenylation sites.
Carcinoma, Hepatocellular
Measurement of phenylalanine hydroxylase turnover in cultured hepatoma cells.
Carcinoma, Hepatocellular
Mechanism of inactivation of phenylalanine hydroxylase by p-chlorophenylalanine in hepatome cells in culture. Two possible models.
Carcinoma, Hepatocellular
Molecular basis of phenylketonuria and recombinant DNA strategies for its therapy.
Carcinoma, Hepatocellular
P-chlorophenylalanine does not inhibit production of recombinant human phenylalanine hydroxylase in NIH3T3 cells or E. coli.
Carcinoma, Hepatocellular
p-Chlorphenylalanine effect on phenylalanine hydroxylase in hepatoma cells in culture.
Carcinoma, Hepatocellular
Phenylalanine hydroxylase activity in isolated, perfused liver of rats bearing rhodamine sarcoma, hepatoma, and nodular hyperplasia.
Carcinoma, Hepatocellular
Properties of phenylalanine hydroxylase of cultured hepatoma cells.
Carcinoma, Hepatocellular
Retroviral-mediated gene transfer of human phenylalanine hydroxylase into NIH 3T3 and hepatoma cells.
Carcinoma, Hepatocellular
Reversible inactivation of phenylalanine hydroxylase by catecholamines in cultured hepatoma cells.
Carcinoma, Hepatocellular
RNA from rat hepatoma cells can activate phenylalanine hydroxylase gene of mouse erythroleukemia cells.
Carcinoma, Hepatocellular
The activity of phenylalanine hydroxylase of hepatoma and liver of normal and tumorous animals.
Carcinoma, Hepatocellular
The unique identity of rat hepatoma phenylalanine hydroxylase.
Carcinoma, Hepatocellular
Translation of phenylalanine hydroxylase-specific mRNA in vitro: evidence for pretranslational control by glucocorticoids.
Carcinoma, Hepatocellular
[Phenylalanine hydroxylase activity in hepatomas and livers of normal and tumor-bearing animals.]
Central Nervous System Diseases
The neurochemistry of phenylketonuria.
Coma
Hyperphenylalaninaemia in children with falciparum malaria.
Congenital Abnormalities
The incidence of phenylketonuria in Thailand.
Cystic Fibrosis
Maternal genetic disorders and fetal development.
Cystic Fibrosis
PhenCode: connecting ENCODE data with mutations and phenotype.
Cystic Fibrosis
Understanding human disease mutations through the use of interspecific genetic variation.
Deficiency Diseases
HPLC for confirmatory diagnosis and biochemical monitoring of cuban patients with hyperphenylalaninemias.
Dehydration
Crystal structure of DCoH, a bifunctional, protein-binding transcriptional coactivator.
Dermatitis
Studies of phenylketonurics with dermatitis.
Down Syndrome
[Disorders of phenylalanine and tyrosine metabolism in Down's syndrome]
Epilepsy, Reflex
[An increase in phenylalanine hydroxylase activity in white rats predispoed to audiogenic epilepsy]
Fetal Diseases
Methylome repatterning in a mouse model of Maternal PKU Syndrome.
Genetic Diseases, Inborn
A microparticulate based formulation to protect therapeutic enzymes from proteolytic digestion: phenylalanine ammonia lyase as case study.
Genetic Diseases, Inborn
A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria.
Genetic Diseases, Inborn
An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.
Genetic Diseases, Inborn
Anabolic function of phenylalanine hydroxylase in Caenorhabditis elegans.
Genetic Diseases, Inborn
Aptamer-based assay for monitoring genetic disorder phenylketonuria (PKU).
Genetic Diseases, Inborn
Dietary glycomacropeptide supports growth and reduces the concentrations of phenylalanine in plasma and brain in a murine model of phenylketonuria.
Genetic Diseases, Inborn
Erythrocyte-mediated delivery of phenylalanine ammonia lyase for the treatment of phenylketonuria in BTBR-Pah(enu2) mice.
Genetic Diseases, Inborn
Expression analysis of phenylketonuria mutations. Effect on folding and stability of the phenylalanine hydroxylase protein.
Genetic Diseases, Inborn
Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase.
Genetic Diseases, Inborn
Genetically engineered probiotic for the treatment of phenylketonuria (PKU); assessment of a novel treatment in vitro and in the PAHenu2 mouse model of PKU.
Genetic Diseases, Inborn
Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish.
Genetic Diseases, Inborn
GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria.
Genetic Diseases, Inborn
HPLC for confirmatory diagnosis and biochemical monitoring of cuban patients with hyperphenylalaninemias.
Genetic Diseases, Inborn
Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency.
Genetic Diseases, Inborn
In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.
Genetic Diseases, Inborn
Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany.
Genetic Diseases, Inborn
Modulation of Human Phenylalanine Hydroxylase by 3-Hydroxyquinolin-2(1H)-One Derivatives.
Genetic Diseases, Inborn
Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene.
Genetic Diseases, Inborn
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.
Genetic Diseases, Inborn
Natural phenylalanine hydroxylase variants that confer a mild phenotype affect the enzyme's conformational stability and oligomerization equilibrium.
Genetic Diseases, Inborn
Oligodendrocyte development and myelinogenesis are not impaired by high concentrations of phenylalanine or its metabolites.
Genetic Diseases, Inborn
Pegvaliase: First Global Approval.
Genetic Diseases, Inborn
Phenylalanine ammonia lyase, enzyme substitution therapy for phenylketonuria, where are we now?
Genetic Diseases, Inborn
Phenylalanine ammonia-lyase modified with polyethylene glycol: Potential therapeutic agent for phenylketonuria.
Genetic Diseases, Inborn
PKU is a reversible neurodegenerative process within the nigrostriatum that begins as early as 4 weeks of age in Pah(enu2) mice.
Genetic Diseases, Inborn
Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.
Genetic Diseases, Inborn
Rapid carrier screening using short tandem repeats in the phenylalanine hydroxylase gene.
Genetic Diseases, Inborn
Rapid detection of PAH gene mutations in Chinese people.
Genetic Diseases, Inborn
Recovery of neurogenic amines in phenylketonuria mice after liver-targeted gene therapy.
Genetic Diseases, Inborn
Sapropterin dihydrochloride (Kuvan/Phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria.
Genetic Diseases, Inborn
Simulations of the regulatory ACT domain of human phenylalanine hydroxylase unveil its mechanism of phenylalanine binding.
Genetic Diseases, Inborn
Stress and quality of life in parents of children with phenylketonuria.
Genetic Diseases, Inborn
Structure of full-length human phenylalanine hydroxylase in complex with tetrahydrobiopterin.
Genetic Diseases, Inborn
Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations.
Genetic Diseases, Inborn
[Financial justification of investments into special diet for patients with phenylketonuria].
Genetic Diseases, Inborn
[Lipids composition diet in phenylketonuric children with early diagnosis]
Genetic Diseases, Inborn
[Phenylketonuria as a model system for DNA diagnosis of hereditary disorders]
Genetic Diseases, Inborn
[Spectrum and methods of detection of mutations in a phenylalanine hydroxylase gene from patients with phenylketonuria from the Novosibirsk region]
Heart Defects, Congenital
Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study.
Hepatitis
[Disorders of the liver phenylalanine hydroxylase system in viral hepatitis]
Homocystinuria
Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.
Infections
Hyperphenylalaninaemia in children with falciparum malaria.
Infections
Phenylalanine metabolism in Microtus montanus chronically infected with Trypanosoma brucei gambiense.
Intellectual Disability
Administration-route and gender-independent long-term therapeutic correction of phenylketonuria (PKU) in a mouse model by recombinant adeno-associated virus 8 pseudotyped vector-mediated gene transfer.
Intellectual Disability
Correction in Female PKU Mice by Repeated Administration of mPAH cDNA Using phiBT1 Integration System.
Intellectual Disability
Gene therapy for phenylketonuria: phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene transfer.
Intellectual Disability
Hepatic gene therapy: adenovirus enhancement of receptor-mediated gene delivery and expression in primary hepatocytes.
Intellectual Disability
Hippocampal synaptic connectivity in phenylketonuria.
Intellectual Disability
Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies.
Intellectual Disability
Monogenic traits are not simple: lessons from phenylketonuria.
Intellectual Disability
Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses.
Intellectual Disability
Phenylalanine hydroxylase deficiency.
Intellectual Disability
Phenylketonuria is still a major cause of mental retardation in Tunisia despite the possibility of treatment.
Intellectual Disability
Phenylketonuria: Direct and indirect effects of phenylalanine.
Intellectual Disability
Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA.
Intellectual Disability
Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997.
Intellectual Disability
Strategies Used in Production of Phenylalanine-Free Foods for PKU Management.
Intellectual Disability
Structure of full-length human phenylalanine hydroxylase in complex with tetrahydrobiopterin.
Intellectual Disability
Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria.
Intellectual Disability
Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria.
Intellectual Disability
The fas/fas ligand death receptor pathway contributes to phenylalanine-induced apoptosis in cortical neurons.
Intellectual Disability
[Lipids composition diet in phenylketonuric children with early diagnosis]
Kidney Failure, Chronic
Studies of phenylalanine hydroxylase activity in patients with chronic renal failure: the effect of haemodialysis.
Leukemia, Erythroblastic, Acute
Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity.
Leukemia, Erythroblastic, Acute
Amplification and expression of phenylalanine hydroxylase in mouse erythroleukemia cells.
Leukemia, Erythroblastic, Acute
DNA-mediated restoration of phenylalanine hydroxylase gene expression in enzyme-deficient derivatives of enzyme-constitutive mouse cell hybrids.
Leukemia, Erythroblastic, Acute
Epigenetic activation of phenylalanine hydroxylase in mouse erythroleukemia cells by the cytoplast of rat hepatoma cells.
Leukemia, Erythroblastic, Acute
RNA from rat hepatoma cells can activate phenylalanine hydroxylase gene of mouse erythroleukemia cells.
Liver Diseases
Treatment of a metabolic liver disease by in vivo genome base editing in adult mice.
Malaria
Hyperphenylalaninaemia in children with falciparum malaria.
Melanoma
Melanoma cases demonstrate increased carrier frequency of phenylketonuria/hyperphenylalanemia mutations.
Melanoma
Phenylalanine hydroxylase in melanoma cells.
Menkes Kinky Hair Syndrome
[Hypomelanoses transmitted from generation to generation].
Metabolic Diseases
A novel approach for enzyme replacement therapy. The use of phenylalanine hydroxylase-based fusion proteins for the treatment of phenylketonuria.
Metabolic Diseases
A single origin of phenylketonuria in Yemenite Jews.
Metabolic Diseases
Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuria.
Metabolic Diseases
Hepatocyte transplantation using the domino concept in a child with Tetrabiopterin non-responsive phenylketonuria.
Metabolic Diseases
In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients.
Metabolic Diseases
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
Metabolic Diseases
Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population.
Metabolic Diseases
New PAH gene promoter KLF1 and 3'-region C/EBPalpha motifs influence transcription in vitro.
Metabolic Diseases
Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians' current practices.
Metabolic Diseases
Propagation of Plasma L-Phenylalanine Concentration Fluctuations to the Neurovascular Unit in Phenylketonuria: An in silico Study.
Metabolic Diseases
Strategies Used in Production of Phenylalanine-Free Foods for PKU Management.
Metabolic Diseases
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.
Metabolic Diseases
Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation.
Metabolic Diseases
White matter disturbances in phenylketonuria: Possible underlying mechanisms.
Metabolic Diseases
[Diagnosis and monitoring of phenylketonuria by LC-MS-MS in Morocco].
Metabolic Diseases
[Neurological, neuropsychological, and ophtalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients].
Metabolic Diseases
[Phenylketonuria]
Metabolic Diseases
[Why do mutations cause disease--a protein chemical perspective]
Metabolism, Inborn Errors
A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency.
Metabolism, Inborn Errors
Coenzyme Q10 in phenylketonuria and mevalonic aciduria.
Metabolism, Inborn Errors
Delayed phenylketonuria diagnosis: a challenging case in child psychiatry.
Metabolism, Inborn Errors
Early-onset behavioral and neurochemical deficits in the genetic mouse model of phenylketonuria.
Metabolism, Inborn Errors
Maternal genetic disorders and fetal development.
Metabolism, Inborn Errors
Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU).
Metabolism, Inborn Errors
Reversal of Metabolic and Neurological Symptoms of Phenylketonuric Mice Treated with a PAH Containing Helper-Dependent Adenoviral Vector.
Metabolism, Inborn Errors
Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
Metabolism, Inborn Errors
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Mevalonate Kinase Deficiency
Coenzyme Q10 in phenylketonuria and mevalonic aciduria.
Microcephaly
Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Myotonic Dystrophy
Maternal genetic disorders and fetal development.
Neoplasms
Impact of quaternary structure dynamics on allosteric drug discovery.
Neoplasms
Localization of the human achaete-scute homolog gene (ASCL1) distal to phenylalanine hydroxylase (PAH) and proximal to tumor rejection antigen (TRA1) on chromosome 12q22-q23.
Nervous System Diseases
Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies.
Neurodegenerative Diseases
Drug S-oxidation and phenylalanine hydroxylase: a biomarker for neurodegenerative susceptibility in Parkinson's disease and amyotrophic lateral sclerosis.
Parkinson Disease
Drug S-oxidation and phenylalanine hydroxylase: a biomarker for neurodegenerative susceptibility in Parkinson's disease and amyotrophic lateral sclerosis.
Parkinson Disease
Phenylalanine hydroxylase: A biomarker of disease susceptibility in Parkinson's disease and Amyotrophic lateral sclerosis.
phenylalanine 4-monooxygenase deficiency
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
phenylalanine 4-monooxygenase deficiency
A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.
phenylalanine 4-monooxygenase deficiency
A Survey of Eating Attitudes and Behaviors in Adolescents and Adults With Phenylalanine Hydroxylase Deficiency.
phenylalanine 4-monooxygenase deficiency
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria.
phenylalanine 4-monooxygenase deficiency
Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia.
phenylalanine 4-monooxygenase deficiency
Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population.
phenylalanine 4-monooxygenase deficiency
Biochemical study of malnutrition. Part V. Metabolism of phenylalanine and tyrosine.
phenylalanine 4-monooxygenase deficiency
Biopterin responsive phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Biopterins in arginase, dihydropteridine reductase and phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis.
phenylalanine 4-monooxygenase deficiency
Characterization of the mouse phenylalanine hydroxylase mutation Pah(enu3).
phenylalanine 4-monooxygenase deficiency
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.
phenylalanine 4-monooxygenase deficiency
Co-existence of phenylketonuria and Fabry disease on a 3 year-old boy: case report.
phenylalanine 4-monooxygenase deficiency
Corrigendum: Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
phenylalanine 4-monooxygenase deficiency
Delayed phenylketonuria diagnosis: a challenging case in child psychiatry.
phenylalanine 4-monooxygenase deficiency
Diagnosis of phenylalanine hydroxylase deficiency (phenylketonuria).
phenylalanine 4-monooxygenase deficiency
Different phenotypes for phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
phenylalanine 4-monooxygenase deficiency
Dopamine precursors and brain function in phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Early-onset behavioral and neurochemical deficits in the genetic mouse model of phenylketonuria.
phenylalanine 4-monooxygenase deficiency
Epilepsy and phenylketonuria: a case description and EEG-fMRI findings.
phenylalanine 4-monooxygenase deficiency
Evaluation of Plasma Trace Element and Mineral Status in Children and Adolescents with Phenylketonuria Using Data from Inductively-Coupled-Plasma Atomic Emission and Mass Spectrometric Analysis.
phenylalanine 4-monooxygenase deficiency
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
phenylalanine 4-monooxygenase deficiency
Feedback regulation mechanisms for the control of GTP cyclohydrolase I activity.
phenylalanine 4-monooxygenase deficiency
Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.
phenylalanine 4-monooxygenase deficiency
Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil.
phenylalanine 4-monooxygenase deficiency
Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish.
phenylalanine 4-monooxygenase deficiency
Hepatocyte transplantation using the domino concept in a child with Tetrabiopterin non-responsive phenylketonuria.
phenylalanine 4-monooxygenase deficiency
Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles.
phenylalanine 4-monooxygenase deficiency
Heterozygote detection in phenylketonuria.
phenylalanine 4-monooxygenase deficiency
High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002.
phenylalanine 4-monooxygenase deficiency
High levels of orexin A in the brain of the mouse model for phenylketonuria: possible role of orexin A in hyperactivity seen in children with PKU.
phenylalanine 4-monooxygenase deficiency
HPLC for confirmatory diagnosis and biochemical monitoring of cuban patients with hyperphenylalaninemias.
phenylalanine 4-monooxygenase deficiency
Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.
phenylalanine 4-monooxygenase deficiency
Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency.
phenylalanine 4-monooxygenase deficiency
In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder.
phenylalanine 4-monooxygenase deficiency
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios.
phenylalanine 4-monooxygenase deficiency
Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria.
phenylalanine 4-monooxygenase deficiency
Malignant hyperphenylalaninemia--clinical features, biochemical findings, and experience with administration of biopterins.
phenylalanine 4-monooxygenase deficiency
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion Summary, Number 802.
phenylalanine 4-monooxygenase deficiency
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion, Number 802.
phenylalanine 4-monooxygenase deficiency
Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders.
phenylalanine 4-monooxygenase deficiency
Molecular characterization of phenylalanine hydroxylase deficiency in Chile. Mutations in brief no. 243. Online.
phenylalanine 4-monooxygenase deficiency
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
phenylalanine 4-monooxygenase deficiency
Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants.
phenylalanine 4-monooxygenase deficiency
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
phenylalanine 4-monooxygenase deficiency
Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
phenylalanine 4-monooxygenase deficiency
Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias.
phenylalanine 4-monooxygenase deficiency
Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.
phenylalanine 4-monooxygenase deficiency
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.
phenylalanine 4-monooxygenase deficiency
Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.
phenylalanine 4-monooxygenase deficiency
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.
phenylalanine 4-monooxygenase deficiency
Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation.
phenylalanine 4-monooxygenase deficiency
National Institutes of Health (NIH) review of evidence in phenylalanine hydroxylase deficiency (phenylketonuria) and recommendations/guidelines for therapy from the American College of Medical Genetics (ACMG) and Genetics Metabolic Dietitians International (GMDI).
phenylalanine 4-monooxygenase deficiency
Neurocognitive, neuropsychiatric, and neurological outcomes associated with phenylalanine hydroxylase deficiency: Assessment considerations for nurse practitioners.
phenylalanine 4-monooxygenase deficiency
New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria.
phenylalanine 4-monooxygenase deficiency
Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo.
phenylalanine 4-monooxygenase deficiency
Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant.
phenylalanine 4-monooxygenase deficiency
Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene.
phenylalanine 4-monooxygenase deficiency
Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements.
phenylalanine 4-monooxygenase deficiency
Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.
phenylalanine 4-monooxygenase deficiency
Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.
phenylalanine 4-monooxygenase deficiency
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.
phenylalanine 4-monooxygenase deficiency
Phenylalanine hydroxylase deficiency in the peripheral lymphocytes from phenylketonuria.
phenylalanine 4-monooxygenase deficiency
Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.
phenylalanine 4-monooxygenase deficiency
Phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
phenylalanine 4-monooxygenase deficiency
Phenylalanine hydroxylase deficiency: intelligence of patients after early dietary treatment.
phenylalanine 4-monooxygenase deficiency
Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH(4)-responsiveness in South Portugal PKU patients.
phenylalanine 4-monooxygenase deficiency
Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU.
phenylalanine 4-monooxygenase deficiency
Phenylketonuria and glycogen storage disease type III in sibs of one family.
phenylalanine 4-monooxygenase deficiency
Phenylketonuria due to phenylalanine hydroxylase deficiency: an unfolding story. Medical Research Council Working Party on Phenylketonuria.
phenylalanine 4-monooxygenase deficiency
Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China.
phenylalanine 4-monooxygenase deficiency
Physical development in patients with phenylketonuria on dietary treatment: a retrospective study.
phenylalanine 4-monooxygenase deficiency
Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration.
phenylalanine 4-monooxygenase deficiency
Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.
phenylalanine 4-monooxygenase deficiency
Protein intake and physical activity are associated with body composition in individuals with phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Pteridines and mono-amines: relevance to neurological damage.
phenylalanine 4-monooxygenase deficiency
Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997.
phenylalanine 4-monooxygenase deficiency
Recommendations for the nutrition management of phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study.
phenylalanine 4-monooxygenase deficiency
Retrospective Study of Patients with Hyperphenylalaninemia- Experience from a Tertiary Care Center in Pakistan.
phenylalanine 4-monooxygenase deficiency
Sapropterin dihydrochloride for phenylketonuria.
phenylalanine 4-monooxygenase deficiency
Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe.
phenylalanine 4-monooxygenase deficiency
Spectrum and origin of phenylketonuria mutations in Spain.
phenylalanine 4-monooxygenase deficiency
Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province.
phenylalanine 4-monooxygenase deficiency
Testing for Tetrahydrobiopterin Responsiveness in Patients with Hyperphenylalaninemia due to Phenylalanine Hydroxylase Deficiency.
phenylalanine 4-monooxygenase deficiency
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.
phenylalanine 4-monooxygenase deficiency
Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.
phenylalanine 4-monooxygenase deficiency
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art.
phenylalanine 4-monooxygenase deficiency
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: possible regulation of gene expression in a patient with the homozygous L48S mutation.
phenylalanine 4-monooxygenase deficiency
Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients.
phenylalanine 4-monooxygenase deficiency
The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
The molecular basis of phenylalanine hydroxylase deficiency in Croatia.
phenylalanine 4-monooxygenase deficiency
The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study.
phenylalanine 4-monooxygenase deficiency
The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.
phenylalanine 4-monooxygenase deficiency
The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.
phenylalanine 4-monooxygenase deficiency
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling.
phenylalanine 4-monooxygenase deficiency
Treatment of phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Two mutations within the coding sequence of the phenylalanine hydroxylase gene.
phenylalanine 4-monooxygenase deficiency
Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach.
phenylalanine 4-monooxygenase deficiency
Urinary metabolic profile of phenylketonuria in patients receiving total parenteral nutrition and medication.
phenylalanine 4-monooxygenase deficiency
Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.
phenylalanine 4-monooxygenase deficiency
Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.
phenylalanine 4-monooxygenase deficiency
Variations in genotype-phenotype correlations in phenylketonuria patients.
phenylalanine 4-monooxygenase deficiency
Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
phenylalanine 4-monooxygenase deficiency
[A case report of mild from of phenylketonuria]
phenylalanine 4-monooxygenase deficiency
[Characteristics of gene variants among patients with hyperphenylalaninemia from Quanzhou region of Fujian province].
phenylalanine 4-monooxygenase deficiency
[Classification and heterogeneity of hyperphenylalaninemias linked to a phenylalanine hydroxylase deficiency]
phenylalanine 4-monooxygenase deficiency
[Clinical study of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency in southern and northern Chinese patients]
phenylalanine 4-monooxygenase deficiency
[Diagnosis, treatment and long-term following up of 223 patients with hyperphenylalaninemia detected by neonatal screening programs]
phenylalanine 4-monooxygenase deficiency
[Diagnostics and treatment of phenylketonuria.]
phenylalanine 4-monooxygenase deficiency
[Genetic analysis of 36 children affected with phenylalanine hydroxylase deficiency from Fujian].
phenylalanine 4-monooxygenase deficiency
[Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan].
phenylalanine 4-monooxygenase deficiency
[MAOB: a modifier gene in phenylketonuria?]
phenylalanine 4-monooxygenase deficiency
[Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test]
phenylalanine 4-monooxygenase deficiency
[Tetrahydrobiopterin therapy for hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. When and how?]
Phenylketonuria, Maternal
Effects of dietary mixtures of amino acids on fetal growth and maternal and fetal amino acid pools in experimental maternal phenylketonuria.
Phenylketonuria, Maternal
Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome.
Phenylketonuria, Maternal
Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)
Phenylketonuria, Maternal
Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation.
Phenylketonuria, Maternal
Maternal phenylketonuria.
Phenylketonuria, Maternal
Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study.
Phenylketonurias
"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity.
Phenylketonurias
'Celtic' phenylketonuria chromosomes found? Evidence in two regions of Quebec Province.
Phenylketonurias
5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics.
Phenylketonurias
A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family.
Phenylketonurias
A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria.
Phenylketonurias
A bone mineralization defect in the Pahenu2 model of classical phenylketonuria involves compromised mesenchymal stem cell differentiation.
Phenylketonurias
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
Phenylketonurias
A comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients.
Phenylketonurias
A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene.
Phenylketonurias
A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs.
Phenylketonurias
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
Phenylketonurias
A fluorescent multiplex ARMS method for rapid mutation analysis.
Phenylketonurias
A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1.
Phenylketonurias
A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency.
Phenylketonurias
A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.
Phenylketonurias
A microparticulate based formulation to protect therapeutic enzymes from proteolytic digestion: phenylalanine ammonia lyase as case study.
Phenylketonurias
A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.
Phenylketonurias
A molecular survey of phenylketonuria in Iceland: identification of a founding mutation and evidence of predominant Norse settlement.
Phenylketonurias
A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.
Phenylketonurias
A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.
Phenylketonurias
A new model for allosteric regulation of phenylalanine hydroxylase: Implications for disease and therapeutics.
Phenylketonurias
A New View of Bone Loss in Phenylketonuria.
Phenylketonurias
A novel 22bp deletion in a Tunisian phenylketonuria family.
Phenylketonurias
A novel approach for enzyme replacement therapy. The use of phenylalanine hydroxylase-based fusion proteins for the treatment of phenylketonuria.
Phenylketonurias
A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria.
Phenylketonurias
A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency.
Phenylketonurias
A Novel Variant in the PAH Gene Causing Phenylketonuria in an Iranian Pedigree.
Phenylketonurias
A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics.
Phenylketonurias
A preliminary mutation analysis of phenylketonuria in southwest Iran.
Phenylketonurias
A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia.
Phenylketonurias
A prospective population pharmacokinetic analysis of sapropterin dihydrochloride in infants and young children with phenylketonuria.
Phenylketonurias
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria.
Phenylketonurias
A role for overdominant selection in phenylketonuria? Evidence from molecular data.
Phenylketonurias
A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria.
Phenylketonurias
A simple and rapid polymerase chain reaction-based method for detecting a prevalent mutation (R413P) in Japanese phenylketonuria patients.
Phenylketonurias
A simple, rapid, and highly informative PCR-based procedure for prenatal diagnosis and carrier screening of phenylketonuria.
Phenylketonurias
A single origin of phenylketonuria in Yemenite Jews.
Phenylketonurias
A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria.
Phenylketonurias
A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria.
Phenylketonurias
A Survey of Eating Attitudes and Behaviors in Adolescents and Adults With Phenylalanine Hydroxylase Deficiency.
Phenylketonurias
A termination mutant prevalent in Norwegian haplotype 7 phenylketonuria genes.
Phenylketonurias
A unique RFLP haplotype at the phenylalanine hydroxylase locus in Czechoslovak Gypsies with phenylketonuria.
Phenylketonurias
AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria.
Phenylketonurias
Aberrant phenylalanine metabolism in phenylketonuria heterozygotes.
Phenylketonurias
Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe.
Phenylketonurias
Absent phenylalanine hydroxylase activity without phenylketonuria.
Phenylketonurias
ACOG Committee Opinion no. 449: Maternal phenylketonuria.
Phenylketonurias
Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor.
Phenylketonurias
Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria.
Phenylketonurias
Administration-route and gender-independent long-term therapeutic correction of phenylketonuria (PKU) in a mouse model by recombinant adeno-associated virus 8 pseudotyped vector-mediated gene transfer.
Phenylketonurias
Adult-onset phenylketonuria with rapidly progressive dementia and parkinsonism.
Phenylketonurias
Age-related psychophysiological vulnerability to phenylalanine in phenylketonuria.
Phenylketonurias
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.
Phenylketonurias
Altered brain gene expression profiles associated with the pathogenesis of phenylketonuria in a mouse model.
Phenylketonurias
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency.
Phenylketonurias
An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.
Phenylketonurias
An artifact band frequently associated with variable number of tandem repeat marker at phenylalanine hydroxylase gene: application in carrier detection and prenatal diagnosis of phenylketonuria.
Phenylketonurias
An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria.
Phenylketonurias
An Overview of Traditional and Novel Therapeutic Options for the Management of Phenylketonuria.
Phenylketonurias
Anabolic function of phenylalanine hydroxylase in Caenorhabditis elegans.
Phenylketonurias
Analysis of EX5del4232ins268 and EX5del955 PAH gene mutations in Ukrainian patients with phenylketonuria.
Phenylketonurias
Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells.
Phenylketonurias
Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China.
Phenylketonurias
Analysis of the molecular variance at the phenylalanine hydroxylase (PAH) locus.
Phenylketonurias
Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers.
Phenylketonurias
Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia.
Phenylketonurias
Aptamer-based assay for monitoring genetic disorder phenylketonuria (PKU).
Phenylketonurias
Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population.
Phenylketonurias
Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria.
Phenylketonurias
Assessment of the Phenylketonuria (PKU)-Associated Mutation p.R155H Biochemical Manifestations by Mass Spectrometry-Based Blood Metabolite Profiling.
Phenylketonurias
Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro.
Phenylketonurias
Atypical PKU with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro.
Phenylketonurias
Behavioral and Emotional Problems in Early-Treated Brazilian Children and Adolescents with Phenylketonuria.
Phenylketonurias
BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor.
Phenylketonurias
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Phenylketonurias
Biochemical analysis of Centaurea depressa phenylalanine ammonia lyase (PAL) for biotechnological applications in phenylketonuria (PKU).
Phenylketonurias
Biochemical and developmental features of experimental phenylketonuria induced by L-ethionine in suckling rats.
Phenylketonurias
Biochemical study of malnutrition. Part V. Metabolism of phenylalanine and tyrosine.
Phenylketonurias
Biophysical characterization of full-length human phenylalanine hydroxylase provides a deeper understanding of its quaternary structure equilibrium.
Phenylketonurias
Biopterin responsive phenylalanine hydroxylase deficiency.
Phenylketonurias
Biopterins in arginase, dihydropteridine reductase and phenylalanine hydroxylase deficiency.
Phenylketonurias
Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis.
Phenylketonurias
Brain bioenergetics in rats with acute hyperphenylalaninemia.
Phenylketonurias
Carcinogenic effects in a phenylketonuria mouse model.
Phenylketonurias
Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.
Phenylketonurias
Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypes.
Phenylketonurias
Characterization of phenylalanine hydroxylase gene mutations in phenylketonuria in Xinjiang of China.
Phenylketonurias
Characterization of phenylketonuria alleles in the Italian population.
Phenylketonurias
Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype.
Phenylketonurias
Characterization of the mouse phenylalanine hydroxylase mutation Pah(enu3).
Phenylketonurias
Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias.
Phenylketonurias
Clinical application of genotypic diagnosis for phenylketonuria: theoretical considerations.
Phenylketonurias
Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data.
Phenylketonurias
Clinical characterization of tremor in patients with phenylketonuria.
Phenylketonurias
Clinical therapeutics for phenylketonuria.
Phenylketonurias
Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria.
Phenylketonurias
Co-existence of phenylketonuria and Fabry disease on a 3 year-old boy: case report.
Phenylketonurias
Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation.
Phenylketonurias
Coenzyme Q10 in phenylketonuria and mevalonic aciduria.
Phenylketonurias
Cognitive deficits in a genetic mouse model of the most common biochemical cause of human mental retardation.
Phenylketonurias
Committee opinion no: 636: Management of women with phenylketonuria.
Phenylketonurias
Comparative analysis of phenylalanine hydroxylase A104D mutant, associated with variant phenylketonuria, and wild-type enzyme.
Phenylketonurias
Comparative diagnostic value of phenylalanine challenge and phenylalanine hydroxylase activity in phenylketonuria.
Phenylketonurias
Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria.
Phenylketonurias
Comparison of epidermal keratinocytes and dermal fibroblasts as potential target cells for somatic gene therapy of phenylketonuria.
Phenylketonurias
Comparison of genotype and intellectual phenotype in untreated PKU patients.
Phenylketonurias
Complete and persistent phenotypic correction of phenylketonuria in mice by site-specific genome integration of murine phenylalanine hydroxylase cDNA.
Phenylketonurias
Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria.
Phenylketonurias
Complete restoration of phenylalanine oxidation in phenylketonuria mouse by a self-complementary adeno-associated virus vector.
Phenylketonurias
Complete spectrum of PAH mutations in Tataria: presence of Slavic, Turkic and Scandinavian mutations.
Phenylketonurias
Conformational selection turns on phenylalanine hydroxylase.
Phenylketonurias
Connecting mutant phenylalanine hydroxylase with phenylketonuria.
Phenylketonurias
Controlled diet in phenylketonuria and hyperphenylalaninemia may cause serum selenium deficiency in adult patients: the Czech experience.
Phenylketonurias
Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples.
Phenylketonurias
Correction in Female PKU Mice by Repeated Administration of mPAH cDNA Using phiBT1 Integration System.
Phenylketonurias
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.
Phenylketonurias
Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system.
Phenylketonurias
Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.
Phenylketonurias
Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria.
Phenylketonurias
Corrigendum: Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
Phenylketonurias
CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model.
Phenylketonurias
CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria.
Phenylketonurias
Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria.
Phenylketonurias
Crystal structure of tyrosine hydroxylase at 2.3 A and its implications for inherited neurodegenerative diseases.
Phenylketonurias
Delayed phenylketonuria diagnosis: a challenging case in child psychiatry.
Phenylketonurias
Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria.
Phenylketonurias
Detection of Heterozygous Carriers of PKU in Egypt: Successful Application of a Simple Biochemical Method.
Phenylketonurias
Detection of phenylalanine hydroxylase messenger RNA in liver biopsy samples from patients with phenylketonuria.
Phenylketonurias
Detection of point mutations of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria.
Phenylketonurias
Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia.
Phenylketonurias
Development of a model for assessment of phenylalanine hydroxylase activity in newborns with phenylketonuria receiving tetrahydrobiopterin: a potential for practical implementation.
Phenylketonurias
Development of a porcine model of phenylketonuria with a humanized R408W mutation for gene editing.
Phenylketonurias
Development of a skin-based metabolic sink for phenylalanine by overexpression of phenylalanine hydroxylase and GTP cyclohydrolase in primary human keratinocytes.
Phenylketonurias
Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria.
Phenylketonurias
Diagnosis of phenylalanine hydroxylase deficiency (phenylketonuria).
Phenylketonurias
Dietary glycomacropeptide supports growth and reduces the concentrations of phenylalanine in plasma and brain in a murine model of phenylketonuria.
Phenylketonurias
Dietary intake and nutritional status of patients with phenylketonuria in Taiwan.
Phenylketonurias
Different phenotypes for phenylalanine hydroxylase deficiency.
Phenylketonurias
Differential effects of low-phenylalanine protein sources on brain neurotransmitters and behavior in C57Bl/6-Pah(enu2) mice.
Phenylketonurias
Diffusion-weighted imaging of white matter abnormalities in patients with phenylketonuria.
Phenylketonurias
Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany.
Phenylketonurias
Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation.
Phenylketonurias
Discussion: Phenylalanine hydroxylase in human kidney; relevance to Phenylketonuria.
Phenylketonurias
Disruption of PTPS Gene Causing Pale Body Color and Lethal Phenotype in the Silkworm, Bombyx mori.
Phenylketonurias
Distribution of some point mutations in the phenylalanine hydroxylase gene of phenylketonuria patients from the Moscow region.
Phenylketonurias
Distributions of phenylalanine hydroxylase mutations and haplotypes in Lithuanian phenylketonuria patients.
Phenylketonurias
Diverse PAH transcripts in lymphocytes of PKU patients with putative nonsense (G272X, Y356X) and missense (P281L, R408Q) mutations.
Phenylketonurias
DNA damage induced by phenylalanine and its analogue p-chlorophenylalanine in blood and brain of rats subjected to a model of hyperphenylalaninemia.
Phenylketonurias
DNA haplotype analyses of patients with hyperphenylalaninemia.
Phenylketonurias
DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population.
Phenylketonurias
DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH(enu2) mouse model of phenylketonuria.
Phenylketonurias
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
Phenylketonurias
Dopamine precursors and brain function in phenylalanine hydroxylase deficiency.
Phenylketonurias
E3 Ubiquitin Ligase APC/CCdh1 Regulation of Phenylalanine Hydroxylase Stability and Function.
Phenylketonurias
Early Stage Discovery and Validation of Pharmacological Chaperones for the Correction of Protein Misfolding Diseases.
Phenylketonurias
Early-onset behavioral and neurochemical deficits in the genetic mouse model of phenylketonuria.
Phenylketonurias
Effect of Delayed Diagnosis of Phenylketonuria With Imaging Findings of Bilateral Diffuse Symmetric White Matter Lesions: A Case Report and Literature Review.
Phenylketonurias
Effects of p-chlorophenylalanine and alpha-methylphenylalanine on amino acid uptake and protein synthesis in mouse neuroblastoma cells.
Phenylketonurias
Enhanced genome editing to ameliorate a genetic metabolic liver disease through co-delivery of adeno-associated virus receptor.
Phenylketonurias
Epilepsy and phenylketonuria: a case description and EEG-fMRI findings.
Phenylketonurias
Erythrocyte-mediated delivery of phenylalanine ammonia lyase for the treatment of phenylketonuria in BTBR-Pah(enu2) mice.
Phenylketonurias
Evaluation of Plasma Trace Element and Mineral Status in Children and Adolescents with Phenylketonuria Using Data from Inductively-Coupled-Plasma Atomic Emission and Mass Spectrometric Analysis.
Phenylketonurias
Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study.
Phenylketonurias
Evidence for central nervous system glial cell plasticity in phenylketonuria.
Phenylketonurias
Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations.
Phenylketonurias
Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.
Phenylketonurias
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Phenylketonurias
Experimentally induced phenylketonuria. 3. Inhibitors of phenylalanine hydroxylase related to esculetin.
Phenylketonurias
Experimentally induced phenylketonuria. 4. Potential inhibitors of phenylalanine hydroxylase.
Phenylketonurias
Experimentally induced phenylketonuria. I. Inhibitors of phenylalanine hydroxylase.
Phenylketonurias
Experimentally induced phenylketonuria. II. Potential inhibitors of phenylalanine hydroxylase.
Phenylketonurias
Expression analysis of phenylketonuria mutations. Effect on folding and stability of the phenylalanine hydroxylase protein.
Phenylketonurias
Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transfer.
Phenylketonurias
Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pah(enu2) mice.
Phenylketonurias
Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.
Phenylketonurias
Feedback regulation mechanisms for the control of GTP cyclohydrolase I activity.
Phenylketonurias
First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population.
Phenylketonurias
First structure of full-length mammalian phenylalanine hydroxylase reveals the architecture of an autoinhibited tetramer.
Phenylketonurias
Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.
Phenylketonurias
Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuria.
Phenylketonurias
Founder effect of a prevalent phenylketonuria mutation in the Oriental population.
Phenylketonurias
Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil.
Phenylketonurias
Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase.
Phenylketonurias
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.
Phenylketonurias
Gene probes: application to prenatal and postnatal diagnosis of genetic disease.
Phenylketonurias
Gene therapy for phenylketonuria.
Phenylketonurias
Gene therapy for phenylketonuria: phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene transfer.
Phenylketonurias
Gene transfer and expression of human phenylalanine hydroxylase.
Phenylketonurias
Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.
Phenylketonurias
Genetic background of clinical homogeneity of phenylketonuria in Poland.
Phenylketonurias
Genetic background of hyperphenylalaninemia in Nagasaki, Japan.
Phenylketonurias
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.
Phenylketonurias
Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.
Phenylketonurias
Genetic variants of the phenylalanine hydroxylase gene in patients with phenylketonuria in the northeast of Iran.
Phenylketonurias
Genetically engineered probiotic for the treatment of phenylketonuria (PKU); assessment of a novel treatment in vitro and in the PAHenu2 mouse model of PKU.
Phenylketonurias
Genetics of phenylketonuria. Third allele at the phenylalanine hydroxylase locus in man.
Phenylketonurias
Genetics of Phenylketonuria: Then and Now.
Phenylketonurias
Genetics of the mammalian phenylalanine hydroxylase system. Studies of human liver phenylalanine hydroxylase subunit structure and of mutations in phenylketonuria.
Phenylketonurias
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Phenylketonurias
Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.
Phenylketonurias
Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil.
Phenylketonurias
Genotype-predicted tetrahydrobiopterin (BH(4))-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.
Phenylketonurias
Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia.
Phenylketonurias
Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish.
Phenylketonurias
Glutathione metabolism enzymes in brain and liver of hyperphenylalaninemic rats and the effect of lipoic acid treatment.
Phenylketonurias
GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria.
Phenylketonurias
Guide for diagnosis and treatment of hyperphenylalaninemia.
Phenylketonurias
Gypsy phenylketonuria: a point mutation of the phenylalanine hydroxylase gene in Gypsy families from Slovakia.
Phenylketonurias
Haplotype analysis of phenylalanine hydroxylase alleles in polish families with phenylketonuria.
Phenylketonurias
Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families.
Phenylketonurias
Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.
Phenylketonurias
Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations.
Phenylketonurias
Hepatic gene therapy: adenovirus enhancement of receptor-mediated gene delivery and expression in primary hepatocytes.
Phenylketonurias
Hepatic phenylalanine hydroxylase activity in hyperphenylalaninaemia.
Phenylketonurias
Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome.
Phenylketonurias
Hepatocyte transplantation using the domino concept in a child with Tetrabiopterin non-responsive phenylketonuria.
Phenylketonurias
Hepatocytes from wild-type or heterozygous donors are equally effective in achieving successful therapeutic liver repopulation in murine phenylketonuria (PKU).
Phenylketonurias
Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles.
Phenylketonurias
Heterogeneity of phenylketonuria at the clinical, protein and DNA levels.
Phenylketonurias
Heterozygote detection in phenylketonuria.
Phenylketonurias
High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002.
Phenylketonurias
High levels of orexin A in the brain of the mouse model for phenylketonuria: possible role of orexin A in hyperactivity seen in children with PKU.
Phenylketonurias
Hippocampal synaptic connectivity in phenylketonuria.
Phenylketonurias
Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia.
Phenylketonurias
HPLC for confirmatory diagnosis and biochemical monitoring of cuban patients with hyperphenylalaninemias.
Phenylketonurias
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
Phenylketonurias
Hyperphenylalaninemia and birth weight.
Phenylketonurias
Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.
Phenylketonurias
Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement.
Phenylketonurias
Identification of a new missense mutation in Japanese phenylketonuric patients.
Phenylketonurias
Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report.
Phenylketonurias
Identification of a novel phenylketonuria (PKU) mutation in the Chinese: further evidence for multiple origins of PKU in Asia.
Phenylketonurias
IDENTIFICATION OF MUTATIONS IN THE PAH GENE IN PKU PATIENTS IN THE STATE OF MATO GROSSO.
Phenylketonurias
Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria.
Phenylketonurias
Identification of three novel missense PKU mutations among Chinese.
Phenylketonurias
Identification of three novel PKU mutations among Chinese: evidence for recombination or recurrent mutation at the PAH locus.
Phenylketonurias
Identifying and elucidating the roles of Y198N and Y204F mutations in the PAH enzyme through molecular dynamic simulations.
Phenylketonurias
Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria.
Phenylketonurias
Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.
Phenylketonurias
Immunological detection of phenylalanine hydroxylase in phenylketonuria.
Phenylketonurias
Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency.
Phenylketonurias
Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome.
Phenylketonurias
Impaired phenylalanine-tyrosine conversion in patients with iron-deficiency anemia studied by a L-(2H5)phenylalanine-loading test.
Phenylketonurias
Improvement, cloning, and expression of an in silico designed protein enriched with large neutral amino acids in Pichia pastoris for possible application in phenylketonuria.
Phenylketonurias
In silico analyses of the effects of a point mutation and a pharmacological chaperone on the thermal fluctuation of phenylalanine hydroxylase.
Phenylketonurias
In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.
Phenylketonurias
In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.
Phenylketonurias
In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria.
Phenylketonurias
In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients.
Phenylketonurias
In vitro splicing deficiency induced by a C to T mutation at position -3 in the intron 10 acceptor site of the phenylalanine hydroxylase gene in a patient with phenylketonuria.
Phenylketonurias
In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations.
Phenylketonurias
In vivo disposal of phenylalanine in phenylketonuria: a study of two siblings.
Phenylketonurias
In vivo inhibition of rat liver phenylalanine hydroxylase by p-chlorophenylalanine and Esculin. Experimental model of phenylketonuria.
Phenylketonurias
In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Phenylketonurias
Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria.
Phenylketonurias
Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria.
Phenylketonurias
Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study.
Phenylketonurias
Insights from Animal Models on the Pathophysiology of Hyperphenylalaninemia: Role of Mitochondrial Dysfunction, Oxidative Stress and Inflammation.
Phenylketonurias
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
Phenylketonurias
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees.
Phenylketonurias
Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria.
Phenylketonurias
Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.
Phenylketonurias
Investigation of Five Common Mutations on Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from Two Provinces in North of Iran.
Phenylketonurias
Investigation of oxidative stress parameters in treated phenylketonuric patients.
Phenylketonurias
L-phenylalanine binding and domain organization in human phenylalanine hydroxylase: a differential scanning calorimetry study.
Phenylketonurias
Large deletions in the phenylalanine hydroxylase gene as a cause of phenylketonuria in India.
Phenylketonurias
Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis.
Phenylketonurias
Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder.
Phenylketonurias
Late-diagnosed phenylketonuria mimicking x-linked adrenoleukodystrophy with heterozygous mutations of the PAH Gene: A case report and literature review.
Phenylketonurias
Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population.
Phenylketonurias
Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal.
Phenylketonurias
Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.
Phenylketonurias
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios.
Phenylketonurias
Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria.
Phenylketonurias
Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylketonuria mice.
Phenylketonurias
Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial.
Phenylketonurias
Long-term enzymatic and phenotypic correction in the phenylketonuria mouse model by adeno-associated virus vector-mediated gene transfer.
Phenylketonurias
Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria.
Phenylketonurias
Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment.
Phenylketonurias
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience.
Phenylketonurias
Long-Term Metabolic Correction of Phenylketonuria by AAV-Delivered Phenylalanine Amino Lyase.
Phenylketonurias
Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study.
Phenylketonurias
Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acids.
Phenylketonurias
Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany.
Phenylketonurias
Low-Dose Gene Therapy for Murine PKU Using Episomal Naked DNA Vectors Expressing PAH from Its Endogenous Liver Promoter.
Phenylketonurias
Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation.
Phenylketonurias
Malignant hyperphenylalaninemia--clinical features, biochemical findings, and experience with administration of biopterins.
Phenylketonurias
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion Summary, Number 802.
Phenylketonurias
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion, Number 802.
Phenylketonurias
Manipulation of a cation-? sandwich reveals conformational flexibility in phenylalanine hydroxylase.
Phenylketonurias
Manipulation of the phenylalanine metabolism in human keratinocytes by retroviral mediated gene transfer.
Phenylketonurias
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
Phenylketonurias
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.
Phenylketonurias
Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation.
Phenylketonurias
Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.
Phenylketonurias
Melanoma cases demonstrate increased carrier frequency of phenylketonuria/hyperphenylalanemia mutations.
Phenylketonurias
Mesenchymal stem cell energy deficit and oxidative stress contribute to osteopenia in the Pahenu2 classical PKU mouse.
Phenylketonurias
Metabolic and catecholamine response to sympathetic stimulation in early-treated adult male patients with phenylketonuria.
Phenylketonurias
Metabolic basis of sexual dimorphism in PKU mice after genome-targeted PAH gene therapy.
Phenylketonurias
Metabolomics analysis reveals perturbations of cerebrocortical metabolic pathways in the Pahenu2 mouse model of phenylketonuria.
Phenylketonurias
Methylome repatterning in a mouse model of Maternal PKU Syndrome.
Phenylketonurias
Minimally invasive (13)C-breath test to examine phenylalanine metabolism in children with phenylketonuria.
Phenylketonurias
Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria.
Phenylketonurias
Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications.
Phenylketonurias
Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency.
Phenylketonurias
Modulation of Human Phenylalanine Hydroxylase by 3-Hydroxyquinolin-2(1H)-One Derivatives.
Phenylketonurias
Modulation of the activity of newly synthesized human phenylalanine hydroxylase mutant proteins by low-molecular-weight compounds.
Phenylketonurias
Molecular analysis of exons 6 and 7 of phenylalanine hydroxylase gene mutations in Phenylketonuria patients in Western Iran.
Phenylketonurias
Molecular analysis of PKU haplotypes in the population of southern Poland.
Phenylketonurias
Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders.
Phenylketonurias
Molecular basis of mild hyperphenylalaninaemia in Poland.
Phenylketonurias
Molecular basis of phenotypic heterogeneity in phenylketonuria.
Phenylketonurias
Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.
Phenylketonurias
Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.
Phenylketonurias
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
Phenylketonurias
Molecular characterization of phenylalanine hydroxylase deficiency in Chile. Mutations in brief no. 243. Online.
Phenylketonurias
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
Phenylketonurias
Molecular characterization of phenylketonuria in Japanese patients.
Phenylketonurias
Molecular characterization of phenylketonuria in South Brazil.
Phenylketonurias
Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants.
Phenylketonurias
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
Phenylketonurias
Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
Phenylketonurias
Molecular Genetic Analysis of the Variable Number of Tandem-Repeat Alleles at the Phenylalanine Hydroxylase Gene in Iranian Azeri Turkish Population.
Phenylketonurias
Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S.
Phenylketonurias
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
Phenylketonurias
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
Phenylketonurias
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
Phenylketonurias
Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.
Phenylketonurias
Molecular genetics of phenylketonuria in Orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene.
Phenylketonurias
Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene.
Phenylketonurias
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Phenylketonurias
Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus.
Phenylketonurias
Monogenic traits are not simple: lessons from phenylketonuria.
Phenylketonurias
Mouse models of human phenylketonuria.
Phenylketonurias
Mouse phenylalanine hydroxylase. Homology and divergence from human phenylalanine hydroxylase.
Phenylketonurias
Multiple origins for phenylketonuria in Europe.
Phenylketonurias
Mutation analysis anticipates dietary requirements in phenylketonuria.
Phenylketonurias
Mutation Analysis in Classical Phenylketonuria Patients Followed by Detecting Haplotypes Linked to Some PAH Mutations.
Phenylketonurias
Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias.
Phenylketonurias
Mutation analysis in hyperphenylalaninemia patients from South Italy.
Phenylketonurias
Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria.
Phenylketonurias
Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations.
Phenylketonurias
Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria.
Phenylketonurias
Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China.
Phenylketonurias
Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran.
Phenylketonurias
Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.
Phenylketonurias
Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples.
Phenylketonurias
Mutation screening of phenylketonuria in the Far East of Russia.
Phenylketonurias
Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.
Phenylketonurias
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.
Phenylketonurias
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.
Phenylketonurias
Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.
Phenylketonurias
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.
Phenylketonurias
Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.
Phenylketonurias
Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation.
Phenylketonurias
Mutational spectrum of phenylketonuria in Jiangsu province.
Phenylketonurias
Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China.
Phenylketonurias
Mutations identified in exon 7 of phenylalanine hydroxylase gene in Chinese.
Phenylketonurias
Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia.
Phenylketonurias
Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.
Phenylketonurias
Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.
Phenylketonurias
Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria.
Phenylketonurias
Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria.
Phenylketonurias
Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China.
Phenylketonurias
Myelin turnover in hyperphenylalaninaemia. A re-evaluation with the HPH-5 mouse.
Phenylketonurias
National Institutes of Health (NIH) review of evidence in phenylalanine hydroxylase deficiency (phenylketonuria) and recommendations/guidelines for therapy from the American College of Medical Genetics (ACMG) and Genetics Metabolic Dietitians International (GMDI).
Phenylketonurias
Near-ultraviolet photolysis of beta-phenylpyruvic acid generates free radicals and results in DNA damage.
Phenylketonurias
Neopterin and biopterin levels in patients with atypical forms of phenylketonuria.
Phenylketonurias
Neurocognitive, neuropsychiatric, and neurological outcomes associated with phenylalanine hydroxylase deficiency: Assessment considerations for nurse practitioners.
Phenylketonurias
Neurological aspects of adult phenylketonuria.
Phenylketonurias
Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough?
Phenylketonurias
New approaches to the treatment of phenylketonuria.
Phenylketonurias
New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Phenylketonurias
New PAH gene promoter KLF1 and 3'-region C/EBPalpha motifs influence transcription in vitro.
Phenylketonurias
New protein structures provide an updated understanding of phenylketonuria.
Phenylketonurias
Newborn mass screening and molecular genetics of phenylketonuria in east Asia.
Phenylketonurias
Non-invasive prenatal testing of pregnancies at risk for phenylketonuria.
Phenylketonurias
Novel association approach for determining the genetic predisposition to schizophrenia: case-control resource and testing of a candidate gene.
Phenylketonurias
Novel frame shift deletions of the phenylalanine hydroxylase gene in phenylketonuria.
Phenylketonurias
Novel homozygous mutation of phenylalanine hydroxylase gene in a Chinese patient with phenylketonuria.
Phenylketonurias
Novel mutation in exon 7 of phenylalanine hydroxylase gene in a Chinese patient with phenylketonuria.
Phenylketonurias
Novel phenylketonuria mutation detected by analysis of ectopically transcribed phenylalanine hydroxylase mRNA from lymphoblast.
Phenylketonurias
Nutrition, physical growth, and bone density in treated phenylketonuria.
Phenylketonurias
Nutritional Management of Phenylketonuria.
Phenylketonurias
Of mice and men: Plasma phenylalanine reduction in PKU corrects neurotransmitter pathways in the brain.
Phenylketonurias
Oligodendrocyte development and myelinogenesis are not impaired by high concentrations of phenylalanine or its metabolites.
Phenylketonurias
Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria.
Phenylketonurias
Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency.
Phenylketonurias
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.
Phenylketonurias
Oxidative stress in phenylketonuria: what is the evidence?
Phenylketonurias
P-chlorophenylalanine does not inhibit production of recombinant human phenylalanine hydroxylase in NIH3T3 cells or E. coli.
Phenylketonurias
PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population.
Phenylketonurias
PAHdb: a locus-specific knowledgebase.
Phenylketonurias
Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo.
Phenylketonurias
Parkinsonism in Phenylketonuria: A Consequence of Dopamine Depletion?
Phenylketonurias
Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria.
Phenylketonurias
Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses.
Phenylketonurias
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).
Phenylketonurias
Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up.
Phenylketonurias
Pegvaliase: First Global Approval.
Phenylketonurias
Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria.
Phenylketonurias
Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency.
Phenylketonurias
Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria.
Phenylketonurias
Phenylalanine activates the mitochondria-mediated apoptosis through the RhoA/Rho-associated kinase pathway in cortical neurons.
Phenylketonurias
Phenylalanine ammonia lyase, enzyme substitution therapy for phenylketonuria, where are we now?
Phenylketonurias
Phenylalanine ammonia-lyase modified with polyethylene glycol: Potential therapeutic agent for phenylketonuria.
Phenylketonurias
Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: influence of different phenylalanine hydroxylase mutations.
Phenylketonurias
Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant.
Phenylketonurias
Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene.
Phenylketonurias
Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements.
Phenylketonurias
Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.
Phenylketonurias
Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.
Phenylketonurias
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.
Phenylketonurias
Phenylalanine hydroxylase deficiency in the peripheral lymphocytes from phenylketonuria.
Phenylketonurias
Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.
Phenylketonurias
Phenylalanine hydroxylase deficiency.
Phenylketonurias
Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
Phenylketonurias
Phenylalanine hydroxylase deficiency: intelligence of patients after early dietary treatment.
Phenylketonurias
Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH(4)-responsiveness in South Portugal PKU patients.
Phenylketonurias
Phenylalanine hydroxylase deficient phenylketonuria comparative metabolomics identifies energy pathway disruption and oxidative stress.
Phenylketonurias
Phenylalanine hydroxylase expression in liver of a fetus with phenylketonuria.
Phenylketonurias
Phenylalanine hydroxylase from human kidney.
Phenylketonurias
Phenylalanine hydroxylase gene haplotypes in Polynesians: evolutionary origins and absence of alleles associated with severe phenylketonuria.
Phenylketonurias
Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes.
Phenylketonurias
Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: identification of novel mutations that affect PAH RNA.
Phenylketonurias
Phenylalanine hydroxylase gene: a novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria.
Phenylketonurias
Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.
Phenylketonurias
Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles.
Phenylketonurias
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
Phenylketonurias
Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria.
Phenylketonurias
Phenylalanine hydroxylase in human placenta: novel system for study of phenylketonuria.
Phenylketonurias
Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency.
Phenylketonurias
Phenylalanine reduces synaptic density in mixed cortical cultures from mice.
Phenylketonurias
Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU.
Phenylketonurias
Phenylketonuria and glycogen storage disease type III in sibs of one family.
Phenylketonurias
Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.
Phenylketonurias
Phenylketonuria and its variants.
Phenylketonurias
Phenylketonuria and the phenylalanine hydroxylase gene.
Phenylketonurias
Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation.
Phenylketonurias
Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.
Phenylketonurias
Phenylketonuria due to phenylalanine hydroxylase deficiency: an unfolding story. Medical Research Council Working Party on Phenylketonuria.
Phenylketonurias
Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway.
Phenylketonurias
Phenylketonuria in China: identification and characterization of three novel nucleotide substitutions in the human phenylalanine hydroxylase gene.
Phenylketonurias
Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China.
Phenylketonurias
Phenylketonuria in Iranian population: a study in institutions for mentally retarded in Isfahan.
Phenylketonurias
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.
Phenylketonurias
Phenylketonuria in Spain: RFLP haplotypes and linked mutations.
Phenylketonurias
Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.
Phenylketonurias
Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance.
Phenylketonurias
Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.
Phenylketonurias
Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene.
Phenylketonurias
Phenylketonuria is still a major cause of mental retardation in Tunisia despite the possibility of treatment.
Phenylketonurias
Phenylketonuria missense mutations in the Mediterranean.
Phenylketonurias
Phenylketonuria mutant alleles in different populations: missense mutation in exon 7 of phenylalanine hydroxylase gene.
Phenylketonurias
Phenylketonuria mutations in Northern China.
Phenylketonurias
Phenylketonuria Pathophysiology: on the Role of Metabolic Alterations.
Phenylketonurias
Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia.
Phenylketonurias
Phenylketonuria screening in Iranian newborns: a systematic review and meta-analysis.
Phenylketonurias
Phenylketonuria.
Phenylketonurias
Phenylketonuria. The in vivo hydroxylation rate of phenylalanine into tyrosine is decreased.
Phenylketonurias
Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies.
Phenylketonurias
Phenylketonuria: a review of current and future treatments.
Phenylketonurias
Phenylketonuria: an inborn error of phenylalanine metabolism.
Phenylketonurias
Phenylketonuria: detection of a frequent haplotype 4 allele mutation.
Phenylketonurias
Phenylketonuria: Direct and indirect effects of phenylalanine.
Phenylketonurias
Phenylketonuria: distribution of DNA diagnostic patterns in German families.
Phenylketonurias
Phenylketonuria: protein content and amino acids profile of dishes for phenylketonuric patients. The relevance of phenylalanine.
Phenylketonurias
Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.
Phenylketonurias
Physical development in patients with phenylketonuria on dietary treatment: a retrospective study.
Phenylketonurias
PKU dietary handbook to accompany PKU guidelines.
Phenylketonurias
PKU in Slovakia: mutation screening and haplotype analysis.
Phenylketonurias
PKU is a reversible neurodegenerative process within the nigrostriatum that begins as early as 4 weeks of age in Pah(enu2) mice.
Phenylketonurias
PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme.
Phenylketonurias
Plasma Phospholipidomic Profile Differs between Children with Phenylketonuria and Healthy Children.
Phenylketonurias
Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration.
Phenylketonurias
Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria.
Phenylketonurias
Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU).
Phenylketonurias
Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU).
Phenylketonurias
Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families.
Phenylketonurias
Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria.
Phenylketonurias
Polyol additives modulate the in vitro stability and activity of recombinant human phenylalanine hydroxylase.
Phenylketonurias
Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA.
Phenylketonurias
Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.
Phenylketonurias
Population genetics of phenylketonuria.
Phenylketonurias
Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria.
Phenylketonurias
Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.
Phenylketonurias
Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations.
Phenylketonurias
Preliminary mutation analysis in the phenylalanine hydroxylase gene in Greek PKU and HPA patients.
Phenylketonurias
Prenatal detection of an Arg----Ter mutation at codon 111 of the PAH gene using DNA amplification.
Phenylketonurias
Prenatal diagnosis of Chinese families with phenylketonuria.
Phenylketonurias
Prenatal diagnosis of classic phenylketonuria by DNA analysis.
Phenylketonurias
Prenatal diagnosis of classical phenylketonuria by linked restriction fragment length polymorphism analysis.
Phenylketonurias
Prenatal diagnosis of phenylketonuria.
Phenylketonurias
Preservation of high phenylalanine ammonia lyase activities in roots of Japanese Striped corn: A potential oral therapeutic to treat phenylketonuria.
Phenylketonurias
Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria.
Phenylketonurias
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
Phenylketonurias
Production of human recombinant phenylalanine hydroxylase in Lactobacillus plantarum for gastrointestinal delivery.
Phenylketonurias
Propagation of Plasma L-Phenylalanine Concentration Fluctuations to the Neurovascular Unit in Phenylketonuria: An in silico Study.
Phenylketonurias
Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU).
Phenylketonurias
Protective effect of recombinant adeno-associated virus 2/8-mediated gene therapy from the maternal hyperphenylalaninemia in offsprings of a mouse model of phenylketonuria.
Phenylketonurias
Protein intake and physical activity are associated with body composition in individuals with phenylalanine hydroxylase deficiency.
Phenylketonurias
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.
Phenylketonurias
Protein substitute for children and adults with phenylketonuria.
Phenylketonurias
Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments.
Phenylketonurias
Pteridines and mono-amines: relevance to neurological damage.
Phenylketonurias
Purification of inactive phenylalanine hydroxylase protein from liver in classical phenylketonuria.
Phenylketonurias
Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.
Phenylketonurias
Queuosine deficiency in eukaryotes compromises tyrosine production through increased tetrahydrobiopterin oxidation.
Phenylketonurias
Radiation accidents in the Southern Urals (1949-1967) and human genome damage.
Phenylketonurias
Rapid carrier screening using short tandem repeats in the phenylalanine hydroxylase gene.
Phenylketonurias
Rapid classification of phenylketonuria genotypes by analysis of heteroduplexes generated by PCR-amplifiable synthetic DNA.
Phenylketonurias
Rapid detection of PAH gene mutations in Chinese people.
Phenylketonurias
Rapid mutation screening of phenylketonuria by polymerase chain reaction-linked restriction enzyme assay and direct sequence of the phenylalanine hydroxylase gene: clinical application in northern Japan and northern China.
Phenylketonurias
Rapid single-base mismatch detection in genotyping for phenylketonuria.
Phenylketonurias
Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997.
Phenylketonurias
Recommendations for personalized dietary adjustments based on patient response to tetrahydrobiopterin (BH4) in phenylketonuria.
Phenylketonurias
Recommendations for the nutrition management of phenylalanine hydroxylase deficiency.
Phenylketonurias
Reconstitution of enzymatic activity in hepatocytes of phenylalanine hydroxylase-deficient mice.
Phenylketonurias
Recovery of neurogenic amines in phenylketonuria mice after liver-targeted gene therapy.
Phenylketonurias
Recurrent mutation in the human phenylalanine hydroxylase gene.
Phenylketonurias
Reduced 6,6,8-trimethylpterins. Preparation, properties and enzymic reactivities with dihydropteridine reductase, phenylalanine hydroxylase and tyrosine hydroxylase.
Phenylketonurias
Reduced cerebral fluoro-L-dopamine uptake in adult patients suffering from phenylketonuria.
Phenylketonurias
Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome.
Phenylketonurias
Regular exercise prevents oxidative stress in the brain of hyperphenylalaninemic rats.
Phenylketonurias
Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients.
Phenylketonurias
Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study.
Phenylketonurias
Relationship between genotype and phenotype in monogenic diseases: relevance to polygenic diseases.
Phenylketonurias
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.
Phenylketonurias
Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population.
Phenylketonurias
Relationship between myelin production and dopamine synthesis in the PKU mouse brain.
Phenylketonurias
Reliable analysis of phenylalanine and tyrosine in a minimal volume of blood.
Phenylketonurias
Retraction for Chen et al., Complete and persistent phenotypic correction of phenylketonuria in mice by site-specific genome integration of murine phenylalanine hydroxylase cDNA.
Phenylketonurias
Retrospective Study of Patients with Hyperphenylalaninemia- Experience from a Tertiary Care Center in Pakistan.
Phenylketonurias
Retroviral-mediated gene transfer and expression of human phenylalanine hydroxylase in primary mouse hepatocytes.
Phenylketonurias
Retroviral-mediated gene transfer of human phenylalanine hydroxylase into NIH 3T3 and hepatoma cells.
Phenylketonurias
Reversal of gene expression profile in the phenylketonuria mouse model after adeno-associated virus vector-mediated gene therapy.
Phenylketonurias
Reversal of hypopigmentation in phenylketonuria mice by adenovirus-mediated gene transfer.
Phenylketonurias
Reversal of Metabolic and Neurological Symptoms of Phenylketonuric Mice Treated with a PAH Containing Helper-Dependent Adenoviral Vector.
Phenylketonurias
RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families.
Phenylketonurias
RFLPs of the phenylalanine hydroxylase gene in the Italian population.
Phenylketonurias
Role of catalase and superoxide dismutase activities on oxidative stress in the brain of a phenylketonuria animal model and the effect of lipoic Acid.
Phenylketonurias
Role of the liver in the pathogenesis of cerebral disorders in phenylketonuria.
Phenylketonurias
Saccadic reaction time and ocular findings in phenylketonuria.
Phenylketonurias
Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: Results of a phase 3b study.
Phenylketonurias
Sapropterin dihydrochloride (Kuvan/Phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria.
Phenylketonurias
Sapropterin dihydrochloride for phenylketonuria.
Phenylketonurias
Sapropterin dihydrochloride: A new drug and a new concept in the management of phenylketonuria.
Phenylketonurias
Sapropterin hydrochloride: enzyme enhancement therapy for phenylketonuria.
Phenylketonurias
Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.
Phenylketonurias
Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction.
Phenylketonurias
Screening for six Mediterranean mutations in 90 Egyptian patients with phenylketonuria.
Phenylketonurias
Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS.
Phenylketonurias
Sequence comparison of rat liver phenylalanine hydroxylase and its cDNA clones.
Phenylketonurias
Sequence variation at the phenylalanine hydroxylase gene in the British Isles.
Phenylketonurias
Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes.
Phenylketonurias
Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.
Phenylketonurias
Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe.
Phenylketonurias
Simulations of the regulatory ACT domain of human phenylalanine hydroxylase unveil its mechanism of phenylalanine binding.
Phenylketonurias
Simultaneous measurement of phenylalanine and tyrosine in phenylketonuric plasma and dried blood by high-performance liquid chromatography.
Phenylketonurias
Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial.
Phenylketonurias
Site-specific transgene integration in the human genome catalyzed by phiBT1 phage integrase.
Phenylketonurias
Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency.
Phenylketonurias
Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province.
Phenylketonurias
Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.
Phenylketonurias
Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
Phenylketonurias
Spectrum of phenylketonuria mutations in western Europe and north Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus.
Phenylketonurias
Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India.
Phenylketonurias
START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients.
Phenylketonurias
Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations.
Phenylketonurias
Stress and quality of life in parents of children with phenylketonuria.
Phenylketonurias
Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene.
Phenylketonurias
Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase.
Phenylketonurias
Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria.
Phenylketonurias
Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria.
Phenylketonurias
Structure of full-length human phenylalanine hydroxylase in complex with tetrahydrobiopterin.
Phenylketonurias
Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria.
Phenylketonurias
Studies on the molecular defect in phenylketonuria and hyperphenylalaninaemia using antibodies against phenylalanine hydroxylase.
Phenylketonurias
Study of restriction fragment length polymorphisms at the human phenylalanine hydroxylase locus and evaluation of its potential application in prenatal diagnosis of phenylketonuria in Chinese.
Phenylketonurias
Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo Transfer.
Phenylketonurias
Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin.
Phenylketonurias
Sustained Correction of a Murine Model of Phenylketonuria following a Single Intravenous Administration of AAVHSC15-PAH.
Phenylketonurias
Sustaining benefits of nutritional therapy in young adults with phenylketonuria - A 2?year prospective study.
Phenylketonurias
Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.
Phenylketonurias
Testing for Tetrahydrobiopterin Responsiveness in Patients with Hyperphenylalaninemia due to Phenylalanine Hydroxylase Deficiency.
Phenylketonurias
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.
Phenylketonurias
Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation.
Phenylketonurias
Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings.
Phenylketonurias
Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency.
Phenylketonurias
Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency.
Phenylketonurias
Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.
Phenylketonurias
Tetrahydrobiopterin-responsive hyperphenylalaninaemia due to homozygous mutations in the phenylalanine hydroxylase gene.
Phenylketonurias
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.
Phenylketonurias
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art.
Phenylketonurias
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Phenylketonurias
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: possible regulation of gene expression in a patient with the homozygous L48S mutation.
Phenylketonurias
Tetrahydrobiopterin: biochemistry and pathophysiology.
Phenylketonurias
Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency.
Phenylketonurias
The complete European guidelines on phenylketonuria: diagnosis and treatment.
Phenylketonurias
The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients.
Phenylketonurias
The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria.
Phenylketonurias
The effect of blood phenylalanine concentration on Kuvan response in phenylketonuria.
Phenylketonurias
The effect of improved dietary control on cognitive and psychiatric functioning in adults with phenylketonuria: the ReDAPT study.
Phenylketonurias
The fas/fas ligand death receptor pathway contributes to phenylalanine-induced apoptosis in cortical neurons.
Phenylketonurias
The G46S-hPAH mutant protein: A model to study the rescue of aggregation-prone PKU mutations by chaperones.
Phenylketonurias
The Genetic Landscape and Epidemiology of Phenylketonuria.
Phenylketonurias
The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.
Phenylketonurias
The implications of multiple forms of phenylalanine hydroxylase in phenylketonuria and related diseases of phenylalanine metabolism.
Phenylketonurias
The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene.
Phenylketonurias
The incidence of phenylketonuria in Thailand.
Phenylketonurias
The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.
Phenylketonurias
The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response.
Phenylketonurias
The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin.
Phenylketonurias
The management of phenylketonuria in adult patients in Italy: a survey of six specialist metabolic centers.
Phenylketonurias
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Phenylketonurias
The Missense p.S231F phenylalanine hydroxylase gene mutation causes complete loss of enzymatic activity in vitro.
Phenylketonurias
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.
Phenylketonurias
The molecular basis of phenylalanine hydroxylase deficiency in Croatia.
Phenylketonurias
The molecular basis of phenylketonuria in Koreans.
Phenylketonurias
The molecular basis of phenylketonuria in Lithuania.
Phenylketonurias
The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency.
Phenylketonurias
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.
Phenylketonurias
The mutations and VNTRs in the phenylalanine hydroxylase gene of phenylketonuria in St Petersburg.
Phenylketonurias
The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase.
Phenylketonurias
The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study.
Phenylketonurias
The phenylalanine hydroxylase locus: a marker for the history of phenylketonuria and human genetic diversity. PAH Mutation Analysis Consortium.
Phenylketonurias
The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.
Phenylketonurias
The phenylketonuria patient: A recent dietetic therapeutic approach.
Phenylketonurias
The phenylketonuria-associated substitution R68S converts phenylalanine hydroxylase to a constitutively active enzyme but reduces its stability.
Phenylketonurias
The PKU locus in man is on chromosome 12.
Phenylketonurias
The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme.
Phenylketonurias
The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.
Phenylketonurias
The regulation of phenylalanine hydroxylase in rat tissues in vivo. The maintenance of high plasma phenylalanine concentrations in suckling rats: a model for phenylketonuria.
Phenylketonurias
The relationship between dietary intake, growth and body composition in Phenylketonuria.
Phenylketonurias
The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency.
Phenylketonurias
The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.
Phenylketonurias
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency.
Phenylketonurias
The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples.
Phenylketonurias
The structural basis of phenylketonuria.
Phenylketonurias
The V388M mutation results in a kinetic variant form of phenylalanine hydroxylase.
Phenylketonurias
Three polymorphisms but no disease-causing mutations in the proximal part of the promoter of the phenylalanine hydroxylase gene.
Phenylketonurias
Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling.
Phenylketonurias
Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria.
Phenylketonurias
Tissue-specific activation of mitogen-activated protein kinases for expression of transthyretin by phenylalanine and its metabolite, phenylpyruvic acid.
Phenylketonurias
Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations.
Phenylketonurias
Toward PKU enzyme replacement therapy: PEGylation with activity retention for three forms of recombinant phenylalanine hydroxylase.
Phenylketonurias
Towards the identification of the allosteric Phe-binding site in phenylalanine hydroxylase.
Phenylketonurias
Transient neonatal hyperphenylalaninaemia is not related to mutations at the phenylalanine hydroxylase gene.
Phenylketonurias
Transient phenylketonuria in premature infants.
Phenylketonurias
Treating phenylketonuria by a phenylalanine-free diet.
Phenylketonurias
Treatment of a metabolic liver disease by in vivo genome base editing in adult mice.
Phenylketonurias
Treatment of phenylalanine hydroxylase deficiency.
Phenylketonurias
Trends in enzyme therapy for phenylketonuria.
Phenylketonurias
Tryptophan metabolism: utility of plasmatic assay in phenylketonuria, a study in 6 adult patients.
Phenylketonurias
Two distinct mutations at a single BamHI site in phenylketonuria.
Phenylketonurias
Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.
Phenylketonurias
Two mutations within the coding sequence of the phenylalanine hydroxylase gene.
Phenylketonurias
Two novel mutations in phenylalanine hydroxylase gene and in vitro expression analysis on mutation Arg252Gln.
Phenylketonurias
Typing of families with classical phenylketonuria using three alleles of the Hindiii linked restriction fragment polymorphism, detectable with a phenylalanine hydroxylase cDNA probe. Family typing for PKU by linked HindIII RFLP.
Phenylketonurias
Undiagnosed maternal phenylketonuria: own clinical experience and literature review.
Phenylketonurias
Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: Results from a survey with 228 patients and their caregivers.
Phenylketonurias
Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.
Phenylketonurias
Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings.
Phenylketonurias
Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach.
Phenylketonurias
Urinary metabolic profile of phenylketonuria in patients receiving total parenteral nutrition and medication.
Phenylketonurias
Use of an adeno-associated virus serotype Anc80 to provide durable cure of phenylketonuria in a mouse model.
Phenylketonurias
Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.
Phenylketonurias
Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.
Phenylketonurias
Variants of the phenylalanine hydroxylase gene in neonates with phenylketonuria in Hainan, China.
Phenylketonurias
Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.
Phenylketonurias
Variations in genotype-phenotype correlations in phenylketonuria patients.
Phenylketonurias
Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Phenylketonurias
[A case report of mild from of phenylketonuria]
Phenylketonurias
[A simple and reliable method for detection of the R408W mutation in exon 12 of the phenylalanine hydroxylase gene in the molecular diagnosis of phenylketonuria]
Phenylketonurias
[Advances in the studies of molecular heredity of phenylketonuria.]
Phenylketonurias
[Analysis for phenylalanine hydroxylase gene mutations in 35 ethnic Hui children from Ningxia with phenylketonuria].
Phenylketonurias
[Analysis of large deletion of phenylalanine hydroxylase gene in Chinese patients with phenylketonuria].
Phenylketonurias
[Analysis of mutations in exon 7 of phenylalanine hydroxylase gene among children with phenylketonuria in Ningxia, China].
Phenylketonurias
[Analysis of mutations in the phenylalanine hydroxylase gene in Ukrainian families at high risk for phenylketonuria]
Phenylketonurias
[Analysis of RFLP haplotypes and point mutations at the phenylalanine hydroxylase (PAH) locus in PKU families from north China]
Phenylketonurias
[Analysis of short tandem repeats polymorphism in the phenylalanine hydroxylase gene and its application to prenatal gene diagnosis of phenylketonuria]
Phenylketonurias
[Application of capillary non-gel sieving electrophoresis to the analysis of short tandem repeat in phenylalanine hydroxylase gene and gene diagnosis of phenylketonuria]
Phenylketonurias
[Autosomal recessive diseases with mental retardation.]
Phenylketonurias
[Characteristics of gene variants among patients with hyperphenylalaninemia from Quanzhou region of Fujian province].
Phenylketonurias
[Characteristics of phenylalanine hydroxylase gene mutations among patients with phenylketonuria from Linyi region of Shandong Province].
Phenylketonurias
[Classification and heterogeneity of hyperphenylalaninemias linked to a phenylalanine hydroxylase deficiency]
Phenylketonurias
[Clinical study of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency in southern and northern Chinese patients]
Phenylketonurias
[Comparative effects of different inhibitors of phenylalanine hydroxylase and dihydropteridine reductase. In vivo and in vitro study in rats]
Phenylketonurias
[Correlation between genotypes and biochemical phenotypes of phenylalanine hydroxylase in patients with phenylketonuria].
Phenylketonurias
[Detection of the mutant phenylalanine hydroxylase gene by dideoxy fingerprinting]
Phenylketonurias
[Determination of phenylalanine hydroxylase in patients with phenylketonuria and hyperphenylalaninemia]
Phenylketonurias
[Diagnosis and monitoring of phenylketonuria by LC-MS-MS in Morocco].
Phenylketonurias
[Diagnosis, treatment and long-term following up of 223 patients with hyperphenylalaninemia detected by neonatal screening programs]
Phenylketonurias
[Diagnostics and treatment of phenylketonuria.]
Phenylketonurias
[Financial justification of investments into special diet for patients with phenylketonuria].
Phenylketonurias
[Frequencies of 6 known mutations in phenylalanine hydroxylase gene and their application in prenatal gene diagnosis]
Phenylketonurias
[Genetic analysis of 36 children affected with phenylalanine hydroxylase deficiency from Fujian].
Phenylketonurias
[Genetic diagnosis of phenylketonuria. III. Mutations of phenylalanine hydroxylase gene in Orientals]
Phenylketonurias
[Genetic diagnosis of phenylketonuria. IV. Mutations of phenylalanine hydroxylase gene in Caucasian and Gypsy populations in Czech and Slovakia Republics]
Phenylketonurias
[Genetic diagnosis of phenylketonuria: identification of the mutations of phenylalanine hydroxylase gene by PCR direct sequencing]
Phenylketonurias
[Genetic heterogeneity and approaches to the prenatal diagnosis of phenylketonuria (review)]
Phenylketonurias
[Genetical heterogeneity of phenylketonuria]
Phenylketonurias
[Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan].
Phenylketonurias
[Hypomelanoses transmitted from generation to generation].
Phenylketonurias
[Identification of a nature of mutation in the 12th exon of phenylalanine hydroxylase gene in patients with phenylketonuria]
Phenylketonurias
[Identification of mutation of the phenylalanine hydroxylase gene using an automated DNA sequencer]
Phenylketonurias
[Identification of mutations in the phenylalanine hydroxylase gene and exon 5 novel mutation Y166X(C-->G) in Yunnan]
Phenylketonurias
[Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria]
Phenylketonurias
[Independent origin of rare Y168H mutation of human phenylalanine hydroxylase gene in Russia]
Phenylketonurias
[Lipids composition diet in phenylketonuric children with early diagnosis]
Phenylketonurias
[MAOB: a modifier gene in phenylketonuria?]
Phenylketonurias
[Molecular genetic aspects of phenylketonuria (PKU)]
Phenylketonurias
[Molecular genetics of phenylketonuria in Orientals--linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene]
Phenylketonurias
[Mutation analysis of phenylalanine hydroxylase gene in 55 patients with phenylketonuria from Hebei province].
Phenylketonurias
[Mutation analysis of phenylalanine hydroxylase gene in patients w ith phenylketonuria in Henan province.]
Phenylketonurias
[Mutation analysis of the PAH gene in children with phenylketonuria from the Qinghai area of China].
Phenylketonurias
[Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province]
Phenylketonurias
[Mutation analysis of the phenylalanine hydroxylase gene of phenylketonuria patients of Kemerovskaya Oblast' and Saha Republic].
Phenylketonurias
[Mutation in the structure of exon 7 of the phenylalanine hydroxylase in phenylketonuria patients from the Novosibirsk area]
Phenylketonurias
[Mutation of the phenylalanine hydroxylase gene in the population of central Bohemia. Relation to the clinical picture of phenylketonuria]
Phenylketonurias
[Mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Tianjin and surrounding areas of Northern China]
Phenylketonurias
[Mutations in exon 7 of the phenylalanine hydroxylase (PAH) gene in chinese patients with phenylketonuria]
Phenylketonurias
[Mutations of phenylalanine hydroxylase gene detected in 20 patients with phenylketonuria from Yunnan Province].
Phenylketonurias
[Mutations of the phenylalanine hydroxylase gene in phenylketonuria patients from Shaanxi].
Phenylketonurias
[Neurological, neuropsychological, and ophtalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients].
Phenylketonurias
[Novel mutations identified in exon 7 of phenylalanine hydroxylase gene in Chinese]
Phenylketonurias
[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene]
Phenylketonurias
[Phenylalanine hydroxylase activity in heterozygote hereditary carriers of the phenylketonuria gene]
Phenylketonurias
[Phenylalanine hydroxylase activity in hyperphenyl-alaninemia and classical phenylketonuria]
Phenylketonurias
[Phenylalanine hydroxylase activity in the liver in children with the classic form of phenylketonuria]
Phenylketonurias
[Phenylalanine hydroxylase activity in the livers of patients with phenylketonuria]
Phenylketonurias
[Phenylketonuria as a model system for DNA diagnosis of hereditary disorders]
Phenylketonurias
[Phenylketonuria diagnosed during the neonatal period and breast feeding]
Phenylketonurias
[Phenylketonuria yesterday and today. Evaluation of the work of systematic neonatal screening]
Phenylketonurias
[Phenylketonuria]
Phenylketonurias
[Prenatal screening for phenylketonuria in 2 families by trophoblast biopsy]
Phenylketonurias
[Presence of active phenylalanine hydroxylase in human leukocytes]
Phenylketonurias
[Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test]
Phenylketonurias
[Screening for mutations in the PAH gene in Chinese: a new splice and a novel polymorphic mutation]
Phenylketonurias
[Screening of phenylketonuria and analysis of phenylalanine hydroxylase gene in 380 996 newborns from Hainan province].
Phenylketonurias
[Singleton and twin pregnancies of PKU patients - individual variability of phenylalanine tolerance: experience of a single treatment center (Preliminary report)].
Phenylketonurias
[Spectrum and methods of detection of mutations in a phenylalanine hydroxylase gene from patients with phenylketonuria from the Novosibirsk region]
Phenylketonurias
[Spectrum of phylalanine hydroxylase gene mutations and genotype-phenotype correlation in the patients with phenylketonuria in Beijing area of China]
Phenylketonurias
[Study of the phenylalanine hydroxylase gene variants in patients with phenylketonuria from Jiangxi province].
Phenylketonurias
[Study on the mutations of phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi province].
Phenylketonurias
[Substitutive and dietetic approaches in childhood autistic disorder: interests and limits]
Phenylketonurias
[Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria]
Phenylketonurias
[Tetrahydrobiopterin therapy for hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. When and how?]
Phenylketonurias
[The human genome--chromosome 12]
Phenylketonurias
[The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family].
Phenylketonurias
[The mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Henan province].
Phenylketonurias
[The spectrum of mutational damage to the phenylalanine hydroxylase gene in patients with phenylketonuria in St. Petersburg]
Phenylketonurias
[Use of modified Ayling's method for detection of homozygotes and heterozygotes for phenylketonuria gene]
Phenylketonurias
[Why do mutations cause disease--a protein chemical perspective]
Polycystic Kidney Diseases
Family-based analysis identified CD2 as a susceptibility gene for primary open angle glaucoma in Chinese Han population.
Proteostasis Deficiencies
New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Proteostasis Deficiencies
Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation.
Psychomotor Disorders
Modulation of Human Phenylalanine Hydroxylase by 3-Hydroxyquinolin-2(1H)-One Derivatives.
Renal Insufficiency
Studies of phenylalanine hydroxylase activity in patients with chronic renal failure: the effect of haemodialysis.
Retinoschisis
Understanding human disease mutations through the use of interspecific genetic variation.
Sarcoma
Mapping the sheep genome: production of characterized sheep x hamster cell hybrids.
Sarcoma
Phenylalanine hydroxylase activity in isolated, perfused liver of rats bearing rhodamine sarcoma, hepatoma, and nodular hyperplasia.
Seizures
AUDIOGENIC SEIZURES, THE DILITE LOCUS, AND PHENYLALANINE HYDROXYLASE IN DBA/1 MICE.
Seizures
Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data.
short-chain acyl-coa dehydrogenase deficiency
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Starvation
The influence of starvation and tryptophan administration on the metabolism of phenylalanine, tyrosine and tryptophan in isolated rat liver cells.
Tardive Dyskinesia
Investigation of the phenylalanine hydroxylase gene and tardive dyskinesia.
Teratoma
In vivo differentiation of mouse embryonic stem cells into hepatocytes.
Tuberous Sclerosis
A third gene locus for tuberous sclerosis is closely linked to the phenylalanine hydroxylase gene locus.
Tuberous Sclerosis
Maternal genetic disorders and fetal development.
Turner Syndrome
Maternal genetic disorders and fetal development.
Vitiligo
Defective tetrahydrobiopterin and catecholamine biosynthesis in the depigmentation disorder vitiligo.
Vitiligo
In vivo evidence for compromised phenylalanine metabolism in vitiligo.
Vitiligo
Specific interaction of the diastereomers 7(R)- and 7(S)-tetrahydrobiopterin with phenylalanine hydroxylase: implications for understanding primapterinuria and vitiligo.
Vitiligo
The possible substrate inhibition of epidermal phenylalanine hydroxylase in vitiligo: a new pathogenetic approach.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
0.027 - 0.053
(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin
8.3
(S)-carboxymethyl-L-cysteine
wild type enzyme, in 50 mM potassium phosphate buffer, pH 6.8, at 37°C
20.3
(S)-methyl-L-cysteine
wild type enzyme, in 50 mM potassium phosphate buffer, pH 6.8, at 37°C
0.022 - 0.155
5,6,7,8-tetrahydrobiopterin
0.22
7(R,S)-tetrahydrobiopterin
pH 7.0, 25°C, recombinant enzyme
0.022 - 1.1
L-phenylalanine
29.8
N-acetyl-(S)-carboxymethyl-L-cysteine
wild type enzyme, in 50 mM potassium phosphate buffer, pH 6.8, at 37°C
32.1
N-acetyl-(S)-methyl-L-cysteine
wild type enzyme, in 50 mM potassium phosphate buffer, pH 6.8, at 37°C
57.15 - 63.8
N-acetyl-S-carboxymethyl-L-cysteine
60.54 - 68.25
N-acetyl-S-methyl-L-cysteine
0.0728 - 25.24
S-carboxymethyl-L-cysteine
44.63 - 51.6
S-methyl-L-cysteine
0.032 - 0.047
tetrahydrobiopterin
0.003 - 0.025
(6R)-5,6,7,8-tetrahydrobiopterin
0.008 - 0.024
(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin
0.2
(7R)-5,6,7,8-tetrahydrobiopterin
-
recombinant enzyme
1
4-Fluorophenylalanine
-
approx. value
0.0231 - 0.07812
5,6,7,8-tetrahydrobiopterin
0.033
6,7-dimethyltetrahydropterin
-
-
0.01 - 0.1
6-methyltetrahydropterin
3.1
L-methionine
-
at 37°C, 50 mM potassium phosphate buffer, pH 6.8
0.05 - 7.14
L-phenylalanine
0.043 - 0.55
phenylalanine
4.6
S-carboxy-methyl-L-cysteine
-
at 37°C, 50 mM potassium phosphate buffer, pH 6.8
2 - 25.24
S-carboxymethyl-L-cysteine
0.3
S-methyl-ergothionine
-
at 37°C, 50 mM potassium phosphate buffer, pH 6.8
18.32
S-methyl-L-cysteine
-
at 37°C, 50 mM potassium phosphate buffer, pH 6.8
0.0026 - 0.082
tetrahydrobiopterin
additional information
additional information
-
0.027
(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin
mutant enzyme R155H, in 100 mM Na-HEPES buffer, pH 7.0, at 25°C
0.03
(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin
mutant enzyme P416Q, in 100 mM Na-HEPES buffer, pH 7.0, at 25°C
0.033
(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin
wild type enzyme, in 100 mM Na-HEPES buffer, pH 7.0, at 25°C
0.035
(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin
mutant enzyme R408W, in 100 mM Na-HEPES buffer, pH 7.0, at 25°C
0.04
(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin
mutant enzyme L348V, in 100 mM Na-HEPES buffer, pH 7.0, at 25°C
0.053
(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin
mutant enzyme D143G, in 100 mM Na-HEPES buffer, pH 7.0, at 25°C
0.022
5,6,7,8-tetrahydrobiopterin
mutant enzyme Y414C, using L-phenylalanine as cosubstrate
0.024
5,6,7,8-tetrahydrobiopterin
mutant enzyme V388M, using L-phenylalanine as cosubstrate
0.026
5,6,7,8-tetrahydrobiopterin
wild type enzyme, using L-phenylalanine as cosubstrate
0.027
5,6,7,8-tetrahydrobiopterin
mutant enzyme R261Q, using L-phenylalanine as cosubstrate
0.032
5,6,7,8-tetrahydrobiopterin
mutant enzyme R68S, using L-phenylalanine as cosubstrate
0.04
5,6,7,8-tetrahydrobiopterin
mutant enzyme I65T, using L-phenylalanine as cosubstrate
0.0728
5,6,7,8-tetrahydrobiopterin
wild type enzyme, using S-carboxymethyl-L-cysteine as cosubstrate
0.14
5,6,7,8-tetrahydrobiopterin
mutant enzyme R68S, using S-carboxymethyl-L-cysteine as cosubstrate
0.143
5,6,7,8-tetrahydrobiopterin
mutant enzyme Y414C, using S-carboxymethyl-L-cysteine as cosubstrate
0.146
5,6,7,8-tetrahydrobiopterin
mutant enzyme V388M, using S-carboxymethyl-L-cysteine as cosubstrate
0.15
5,6,7,8-tetrahydrobiopterin
mutant enzyme I65T, using S-carboxymethyl-L-cysteine as cosubstrate
0.155
5,6,7,8-tetrahydrobiopterin
mutant enzyme R261Q, using S-carboxymethyl-L-cysteine as cosubstrate
0.022
L-phenylalanine
mutant enzyme Y414C, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C
0.024
L-phenylalanine
mutant enzyme V388M, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C
0.026
L-phenylalanine
wild type enzyme, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C
0.027
L-phenylalanine
mutant enzyme R261Q, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C
0.032
L-phenylalanine
mutant enzyme R68S, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C
0.04
L-phenylalanine
mutant enzyme I65T, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C
1.1
L-phenylalanine
wild type enzyme, in 50 mM potassium phosphate buffer, pH 6.8, at 37°C
57.15
N-acetyl-S-carboxymethyl-L-cysteine
wild type enzyme from hepatic cytosol
63.8
N-acetyl-S-carboxymethyl-L-cysteine
wild type enzyme from Hep-G2 cell cytosol
60.54
N-acetyl-S-methyl-L-cysteine
wild type enzyme from hepatic cytosol
68.25
N-acetyl-S-methyl-L-cysteine
wild type enzyme from Hep-G2 cell cytosol
0.0728
S-carboxymethyl-L-cysteine
wild type enzyme, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C
0.14
S-carboxymethyl-L-cysteine
mutant enzyme R68S, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C
0.143
S-carboxymethyl-L-cysteine
mutant enzyme Y414C, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C
0.146
S-carboxymethyl-L-cysteine
mutant enzyme V388M, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C
0.15
S-carboxymethyl-L-cysteine
mutant enzyme I65T, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C
0.155
S-carboxymethyl-L-cysteine
mutant enzyme R261Q, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C
16.53
S-carboxymethyl-L-cysteine
wild type enzyme from hepatic cytosol
25.24
S-carboxymethyl-L-cysteine
wild type enzyme from Hep-G2 cell cytosol
44.63
S-methyl-L-cysteine
wild type enzyme from hepatic cytosol
51.6
S-methyl-L-cysteine
wild type enzyme from Hep-G2 cell cytosol
0.032
tetrahydrobiopterin
mutant enzyme Y138E, at pH 7.0 and 25°C
0.035
tetrahydrobiopterin
mutant enzyme Y138F, at pH 7.0 and 25°C
0.039
tetrahydrobiopterin
wild type enzyme, at pH 7.0 and 25°C
0.044
tetrahydrobiopterin
mutant enzyme Y138K, at pH 7.0 and 25°C
0.047
tetrahydrobiopterin
mutant enzyme Y138A, at pH 7.0 and 25°C
0.003
(6R)-5,6,7,8-tetrahydrobiopterin
-
recombinant enzyme
0.025
(6R)-5,6,7,8-tetrahydrobiopterin
-
recombinant enzyme, phenylalanine-activated
0.008
(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin
-
wild-type, pH 7.3, 25°C, measurement by continuous PAH activity assay (direct in-well fluorescence detection): Vmax: 2.277 micromol L-Tyr/min/mg (without L-Phe preincubation)
0.024
(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin
-
wild-type, pH 7.3, 25°C, measurement by standard discontinuous PAH activity assay (HPLC and fluorimetric detection): Vmax: 3.425 micromol L-Tyr/min/mg (with L-Phe preincubation)
0.0231
5,6,7,8-tetrahydrobiopterin
-
using L-phenylalanine as cosubstrate, in pooled hepatic cytosolic enzyme fraction, at 37°C
0.02333
5,6,7,8-tetrahydrobiopterin
-
using L-phenylalanine as cosubstrate, in pooled hepatic cytosolic enzyme fraction activated with 1 mM lysophosphatidylcholine, at 37°C
0.07312
5,6,7,8-tetrahydrobiopterin
-
using S-carboxymethyl-L-cysteine as cosubstrate, in pooled hepatic cytosolic enzyme fraction activated with 1 mM lysophosphatidylcholine, at 37°C
0.07812
5,6,7,8-tetrahydrobiopterin
-
using S-carboxymethyl-L-cysteine as cosubstrate, in pooled hepatic cytosolic enzyme fraction, at 37°C
0.01 - 0.015
6-methyltetrahydropterin
-
-
0.045
6-methyltetrahydropterin
-
recombinant enzyme
0.073
6-methyltetrahydropterin
-
maltose-binding-protein phenylalanine fusion protein
0.085
6-methyltetrahydropterin
-
truncated enzyme containing C-terminal 334 amino acids
0.088
6-methyltetrahydropterin
-
recombinant enzyme
0.09
6-methyltetrahydropterin
-
-
0.1
6-methyltetrahydropterin
-
recombinant enzyme
0.008
Abz-VAA
-
mutant Y325L, 25°C, pH 7.0
0.008
Abz-VAA
-
mutant enzyme Y325L, 25°C, pH 7.0
0.027
Abz-VAA
-
mutant Y325F, 25°C, pH 7.0
0.027
Abz-VAA
-
mutant enzyme Y325F, 25°C, pH 7.0
0.028
Abz-VAA
-
wild-type, 25°C, pH 7.0
0.028
Abz-VAA
-
wild type enzyme, 25°C, pH 7.0
0.1
L-Phe
-
allelic combination wild-type/mutant I65T, Vmax: 1 micromol/min/mg, pH 6.8, 37°C
0.1
L-Phe
-
allelic combination wild-type/mutant R68S, Vmax: 1 micromol/min/mg, pH 6.8, 37°C
0.1
L-Phe
-
allelic combination wild-type/wild-type, Vmax: 3 micromol/min/mg, pH 6.8, 37°C
0.2
L-Phe
-
allelic combination wild-type/mutant Y414C, Vmax: 1 micromol/min/mg, pH 6.8, 37°C
0.9
L-Phe
-
allelic combination wild-type/mutant V388M, Vmax: 0.9 micromol/min/mg, pH 6.8, 37°C
1
L-Phe
-
allelic combination wild-type/mutant R158Q, Vmax: 0.9 micromol/min/mg, pH 6.8, 37°C
1
L-Phe
-
allelic combination wild-type/mutant R261Q, Vmax: 0.9 micromol/min/mg, pH 6.8, 37°C
2
L-Phe
-
allelic combination wild-type/mutant I174T, Vmax: 0.7 micromol/min/mg, pH 6.8, 37°C
3
L-Phe
-
allelic combination wild-type/mutant R408W, Vmax: 0.7 micromol/min/mg, pH 6.8, 37°C
0.05
L-phenylalanine
-
post-translational activation of human cDNA-expressed PAH, activator: NO (nitric oxide) (0.01 mM), Vmax: 33.05 nmoles/min/mg, pH 6.8, 37°C
0.05 - 0.075
L-phenylalanine
-
recombinant enzyme, cofactor tetrahydrobiopterin
0.06
L-phenylalanine
-
post-translational activation of human cDNA-expressed PAH, activator: ONOO- (peroxynitrite)(1 mM), Vmax: 32.65 nmoles/min/mg, pH 6.8, 37°C
0.07
L-phenylalanine
-
post-translational activation of human cDNA-expressed PAH, activator: HO (hydroxyl radical) (0.01 mM), Vmax: 32.3 nmoles/min/mg, pH 6.8, 37°C
0.09
L-phenylalanine
-
native liver enzyme in crude extract, cofactor 6-methyltetrahydropterin
0.12
L-phenylalanine
-
post-translational activation of human cDNA-expressed PAH, activator: lysophosphatidylcholine (5 mM), Vmax: 3.72 nmoles/min/mg, pH 6.8, 37°C
0.12
L-phenylalanine
-
post-translational activation of human cDNA-expressed PAH, activator: N-ethylmaleimide (50 mM), Vmax: 9.3 nmoles/min/mg, pH 6.8, 37°C
0.138
L-phenylalanine
-
cofactor tetrahydrobiopterin
0.14
L-phenylalanine
-
post-translational activation of human cDNA-expressed PAH, activator: H2O2 (0.1 mM), Vmax: 28.4 nmoles/min/mg, pH 6.8, 37°C
0.14
L-phenylalanine
-
post-translational activation of human cDNA-expressed PAH, activator: L-Phe (4 mM), Vmax: 1.86 nmoles/min/mg, pH 6.8, 37°C
0.145
L-phenylalanine
-
truncated enzyme containing C-terminal 334 amino acids
0.16
L-phenylalanine
-
in pooled hepatic cytosolic enzyme fraction activated with 1 mM lysophosphatidylcholine, at 37°C
0.175
L-phenylalanine
-
cofactor tetrahydrobiopterin, recombinant enzyme
0.194
L-phenylalanine
-
cofactor tetrahydrobiopterin, maltose-binding-protein phenylalanine fusion protein
0.236
L-phenylalanine
-
cofactor tetrahydrobiopterin, cleaved maltose-binding-protein phenylalanine fusion protein
0.3 - 0.4
L-phenylalanine
-
native and recombinant enzyme, cofactor 6-methyltetrahydropterin
0.318
L-phenylalanine
-
-
0.318
L-phenylalanine
-
wild-type, pH 7.3, 25°C, measurement by continuous PAH activity assay (direct in-well fluorescence detection): Vmax: 2.53 micromol L-Tyr/min/mg (without L-Phe preincubation), 6.59 micromol L-Tyr/min/mg (with L-Phe preincubation)
0.329
L-phenylalanine
-
recombinant enzyme
0.382
L-phenylalanine
-
cofactor 6-methyltetrahydropterin, recombinant enzyme
0.393
L-phenylalanine
-
cofactor 6-methyltetrahydropterin
0.504
L-phenylalanine
-
cofactor 6-methyltetrahydropterin, maltose-binding-protein phenylalanine fusion protein
0.64
L-phenylalanine
-
at 37°C, 50 mM potassium phosphate buffer, pH 6.8
0.87
L-phenylalanine
-
post-translational activation of PAH in human hepatic cytosol fractions, activator: NO (nitric oxide) (0.01 mM), Vmax: 274.5 nmoles/min/mg, pH 6.8, 37°C
1.22
L-phenylalanine
-
post-translational activation of PAH in human hepatic cytosol fractions, activator: N-ethylmaleimide (50 mM), Vmax: 224 nmoles/min/mg, pH 6.8, 37°C
1.25
L-phenylalanine
-
post-translational activation of PAH in human hepatic cytosol fractions, activator: ONOO- (peroxynitrite)(1 mM), Vmax: 260.4 nmoles/min/mg, pH 6.8, 37°C
1.5 - 2
L-phenylalanine
-
post-translational activation of PAH in human hepatic cytosol fractions, activator: HO (hydroxyl radical) (0.01 mM), Vmax: 241.6 nmoles/min/mg, pH 6.8, 37°C
2.85
L-phenylalanine
-
post-translational activation of PAH in human hepatic cytosol fractions, activator: lysophosphatidylcholine (5 mM), Vmax: 29.1 nmoles/min/mg, pH 6.8, 37°C
3.01
L-phenylalanine
-
post-translational activation of PAH in human hepatic cytosol fractions, activator: H2O2 (0.1 mM), Vmax: 205 nmoles/min/mg, pH 6.8, 37°C
3.05
L-phenylalanine
-
in pooled hepatic cytosolic enzyme fraction, at 37°C
3.05
L-phenylalanine
-
post-translational activation of PAH in human hepatic cytosol fractions, activator: L-Phe (4 mM), Vmax: 14.23 nmoles/min/mg, pH 6.8, 37°C
0.043
phenylalanine
-
recombinant enzyme, cofactor (6R)-methyltetrahydropterin
0.049
phenylalanine
-
phenylalanine-activated recombinant enzyme, cofactor tetrahydrobiopterin
0.05
phenylalanine
-
cofactor tetrahydrobiopterin
0.05
phenylalanine
-
recombinant enzyme, cofactor tetrahydrobiopterin
0.055
phenylalanine
-
recombinant enzyme, cofactor (7R)-5,6,7,8-tetrahydrobiopterin
0.55
phenylalanine
-
cofactor dimethyltetrahydropterin
2 - 3
S-carboxymethyl-L-cysteine
-
allelic combination wild-type/mutant R261Q, Vmax: 15 micromol/min/mg, pH 6.8, 37°C
2.38
S-carboxymethyl-L-cysteine
-
post-translational activation of human cDNA-expressed PAH, activator: NO (nitric oxide) (0.01 mM), Vmax: 42.32 nmoles/min/mg, pH 6.8, 37°C
2.75
S-carboxymethyl-L-cysteine
-
post-translational activation of human cDNA-expressed PAH, activator: H2O2 (0.1 mM), Vmax: 36.5 nmoles/min/mg, pH 6.8, 37°C
3.2
S-carboxymethyl-L-cysteine
-
post-translational activation of human cDNA-expressed PAH, activator: HO (hydroxyl radical) (0.01 mM), Vmax: 36.5 nmoles/min/mg, pH 6.8, 37°C
4.1
S-carboxymethyl-L-cysteine
-
post-translational activation of human cDNA-expressed PAH, activator: ONOO- (peroxynitrite)(1 mM), Vmax: 41.27 nmoles/min/mg, pH 6.8, 37°C
4.38
S-carboxymethyl-L-cysteine
-
post-translational activation of PAH in human hepatic cytosol fractions, activator: NO (nitric oxide) (0.01 mM), Vmax: 500 nmoles/min/mg, pH 6.8, 37°C
4.62
S-carboxymethyl-L-cysteine
-
post-translational activation of PAH in human hepatic cytosol fractions, activator: H2O2 (0.1 mM), Vmax: 430 nmoles/min/mg, pH 6.8, 37°C
5.23
S-carboxymethyl-L-cysteine
-
post-translational activation of PAH in human hepatic cytosol fractions, activator: N-ethylmaleimide (50 mM), Vmax: 450 nmoles/min/mg, pH 6.8, 37°C
6.49
S-carboxymethyl-L-cysteine
-
post-translational activation of PAH in human hepatic cytosol fractions, activator: HO (hydroxyl radical) (0.01 mM), Vmax: 455 nmoles/min/mg, pH 6.8, 37°C
7.54
S-carboxymethyl-L-cysteine
-
post-translational activation of PAH in human hepatic cytosol fractions, activator: ONOO- (peroxynitrite)(1 mM), Vmax: 481 nmoles/min/mg, pH 6.8, 37°C
7.65
S-carboxymethyl-L-cysteine
-
post-translational activation of human cDNA-expressed PAH, activator: N-ethylmaleimide (50 mM), Vmax: 5.58 nmoles/min/mg, pH 6.8, 37°C
8
S-carboxymethyl-L-cysteine
-
allelic combination wild-type/wild-type, Vmax: 114 micromol/min/mg, pH 6.8, 37°C
8.1
S-carboxymethyl-L-cysteine
-
post-translational activation of human cDNA-expressed PAH, activator: L-Phe (4 mM), Vmax: 0.07 nmoles/min/mg, pH 6.8, 37°C
8.3
S-carboxymethyl-L-cysteine
-
post-translational activation of human cDNA-expressed PAH, activator: lysophosphatidylcholine (5 mM), Vmax: 4.38 nmoles/min/mg, pH 6.8, 37°C
15
S-carboxymethyl-L-cysteine
-
allelic combination wild-type/mutant I65T, Vmax: 18 micromol/min/mg, pH 6.8, 37°C
16.22
S-carboxymethyl-L-cysteine
-
-
16.53
S-carboxymethyl-L-cysteine
-
in pooled hepatic cytosolic enzyme fraction activated with 1 mM lysophosphatidylcholine, at 37°C
16.53
S-carboxymethyl-L-cysteine
-
post-translational activation of PAH in human hepatic cytosol fractions, activator: L-Phe (4 mM), Vmax: 0.87 nmoles/min/mg, pH 6.8, 37°C
16.53
S-carboxymethyl-L-cysteine
-
post-translational activation of PAH in human hepatic cytosol fractions, activator: lysophosphatidylcholine (5 mM), Vmax: 52.31 nmoles/min/mg, pH 6.8, 37°C
18
S-carboxymethyl-L-cysteine
-
allelic combination wild-type/mutant R68S, Vmax: 17 micromol/min/mg, pH 6.8, 37°C
19
S-carboxymethyl-L-cysteine
-
allelic combination wild-type/mutant I174T, Vmax: 2 micromol/min/mg, pH 6.8, 37°C
20
S-carboxymethyl-L-cysteine
-
allelic combination wild-type/mutant R158Q, Vmax: 3 micromol/min/mg, pH 6.8, 37°C
21
S-carboxymethyl-L-cysteine
-
allelic combination wild-type/mutant R408W, Vmax: 2 micromol/min/mg, pH 6.8, 37°C
24
S-carboxymethyl-L-cysteine
-
allelic combination wild-type/mutant Y414C, Vmax: 22 micromol/min/mg, pH 6.8, 37°C
25
S-carboxymethyl-L-cysteine
-
allelic combination wild-type/mutant V388M, Vmax: 12 micromol/min/mg, pH 6.8, 37°C
25.24
S-carboxymethyl-L-cysteine
-
-
0.0026
tetrahydrobiopterin
-
-
0.014
tetrahydrobiopterin
-
mutant C237R
0.016
tetrahydrobiopterin
-
recombinant enzyme
0.021
tetrahydrobiopterin
-
recombinant wild-type enzyme, dimeric form
0.022
tetrahydrobiopterin
-
-
0.023
tetrahydrobiopterin
-
native liver enzyme in crude extract
0.025
tetrahydrobiopterin
-
cleaved maltose-binding-protein phenylalanine fusion protein
0.025
tetrahydrobiopterin
-
recombinant wild-type enzyme, tetrameric form
0.029
tetrahydrobiopterin
-
recombinant enzyme
0.03 - 0.04
tetrahydrobiopterin
-
recombinant wild-type, C237S and C237D mutant enzyme
0.031
tetrahydrobiopterin
-
maltose-binding-protein phenylalanine fusion protein
0.031
tetrahydrobiopterin
-
Gly103-Gln428 deletion mutant, dimeric form
0.032
tetrahydrobiopterin
-
Ser2-Gln428 deletion mutant, dimeric form
0.034
tetrahydrobiopterin
-
Asp112-Lys452 deletion mutant, tetrameric form
0.034
tetrahydrobiopterin
-
mutant C237A
0.034
tetrahydrobiopterin
-
mutant C237D
0.035
tetrahydrobiopterin
-
wild-type
0.037
tetrahydrobiopterin
-
mutant R68A
0.037
tetrahydrobiopterin
-
mutant R68V
0.041
tetrahydrobiopterin
-
truncated enzyme containing C-terminal 334 amino acids
0.053
tetrahydrobiopterin
-
recombinant enzyme
0.082
tetrahydrobiopterin
-
V388M mutant enzyme
0.024
tryptophan
-
truncated enzyme containing C-terminal 334 amino acids, pH 8.0
0.096
tryptophan
-
truncated enzyme containing C-terminal 334 amino acids, pH 7.0
additional information
additional information
kinetics, molecular dynamics simulations, structure-energetics calculations, and molecular interaction fields, overview
-
additional information
L-phenylalanine
-
wild-type, pH 7.3, 25°C, measurement by standard discontinuous PAH activity assay (HPLC and fluorimetric detection): Vmax: 0.495 micromol L-Tyr/min/mg (without L-Phe preincubation), 1.55 micromol L-Tyr/min/mg (with L-Phe preincubation), S0.5: 0.318 mM (without L-Phe preincubation), S0.5: 0.154 mM (with L-Phe preincubation)
additional information
additional information
-
kinetic and molecular modelling of sulfur-containing substrates, overview
-
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A202T
the mutation is associated with phenylketonuria
A259T
the mutation is associated with phenylketonuria
A403V
the mutation is associated with phenylketonuria
A447P
the mutation is associated with phenylketonuria
D143G
mutant with a mild misfolding defect associated with phenylketonuria
D338Y
the mutation is associated with phenylketonuria
E178G/Q232E
the mutant shows 55% activity compared to the wild type enzyme
E221G
the mutation is associated with phenylketonuria
E280K
the mutation is associated with phenylketonuria
E390G/R261Q
the mutant shows 63% activity compared to the wild type enzyme
E76A
the mutation is associated with phenylketonuria
F331S
the mutant shows residual enzymatic activity in vitro compared to the wild type enzyme
F382L
naturally occuring mutation and site-directed mutagenesis, the mutant shows 44% reduced activity compared to the wild-type enzyme, analysis of structural alterations
F39C
the mutant enzyme shows reduced activity compared to the wild type
F39L
the mutant enzyme shows reduced activity compared to the wild type
G247R
the mutation is associated with phenylketonuria
G332E
the mutation is associated with phenylketonuria
G33A
increased basal activity, reduced activation by preincubation with substrate
G33V
increased basal activity, reduced activation by preincubation with substrate
G344D
the mutation is associated with phenylketonuria
I174T
the mutation results in the classical phenylketonuria phenotype expressing 0.2-1.8% of the wild type PAH activity when using L-phenylalanine as substrate, and has less 0.1% of the wild type PAH activity when S-carboxymethyl-L-cysteine is used as the substrate
I224T
the mutation is associated with phenylketonuria
I306V
the mutation is associated with phenylketonuria
I65T/R261Q
the mutant shows 19.5% activity compared to the wild type enzyme
I65T/R408W
the mutant shows 15% activity compared to the wild type enzyme
I65V
the mutant enzyme shows reduced activity compared to the wild type
K113P
increased basal activity, reduced activation by preincubation with substrate, increase in positive cooperativity
K398K
naturally occuring mutation
K398N
naturally occuring mutation and site-directed mutagenesis, the mutant shows 45% reduced activity compared to the wild-type enzyme, analysis of structural alterations
L212P
the mutant shows about 20% activity compared to the wild type enzyme
L213P
the mutation is associated with phenylketonuria
L311P
the mutation is associated with phenylketonuria
L358F
the mutant shows residual enzymatic activity in vitro compared to the wild type enzyme
L48S/R261Q
the mutant shows 35% activity compared to the wild type enzyme
N223D
low basal activity, little activation by preincubation with substrate, increase in positive cooperativity
N223Y
naturally occuring mutation and site-directed mutagenesis, the mutant shows 30% reduced activity compared to the wild-type enzyme, analysis of structural alterations
N32D
low basal activity, close to normal activation by preincubation with substrate
N426D
low basal activity, close to normal activation by preincubation with substrate
P225T
the mutation is associated with phenylketonuria
P281S
the mutation is associated with phenylketonuria
P384S
the mutant shows 76% activity compared to the wild type enzyme
P384S/R408W
the mutant shows 56.1% activity compared to the wild type enzyme
P416Q
the mutant retains significant catalytic activity yet is observed in classic and moderate phenylketonuria patients
Q232E
the mutant shows 42% activity compared to the wild type enzyme
Q419R
naturally occuring mutation and site-directed mutagenesis, the mutant shows 29% reduced activity compared to the wild-type enzyme, analysis of structural alterations
R111X
the mutation is associated with phenylketonuria
R155H
the mutant displays low PAH activity and decreased apparent affinity for L-Phe yet is observed in mild hyperphenylalaninaemia, mutant does not display kinetic instability, as it is stabilized by (6R)-L-erythro-5,6,7,8-tetrahydrobiopterin similarly to wild type enzyme
R158Q/R261Q
the mutant shows 23% activity compared to the wild type enzyme
R158W
the mutation is associated with phenylketonuria
R176X
the mutation is associated with phenylketonuria
R241C
the mutation is associated with phenylketonuria
R241H
the mutation is associated with phenylketonuria
R243X
exon 6 C727T mutation naturally occuring in phenylketonuria patients from the Cukurova region in Turkey, sequence determination and analysis
R252W
the mutation is associated with phenylketonuria
R261P
the mutant shows about 14% activity compared to the wild type enzyme
R297C
naturally occuring mutation
R297H
naturally occuring mutation
R297L
naturally occuring mutation and site-directed mutagenesis, the mutant shows 58% reduced activity compared to the wild-type enzyme, analysis of structural alterations
R408W/A300S
the mutant shows 18% activity compared to the wild type enzyme
R408W/I283F
the mutant shows 2% residual activity compared to the wild type enzyme
R408W/I306V
the mutant shows 18% residual activity compared to the wild type enzyme
R408W/pA403V
the mutant shows 20% residual activity compared to the wild type enzyme
R408W/R261Q
the mutant shows 18% activity compared to the wild type enzyme
R408W/R297H
the mutant shows 15% residual activity compared to the wild type enzyme
R408W/Y414C
the mutant shows 40% activity compared to the wild type enzyme
R413P
the mutation is associated with phenylketonuria
S196Y
the mutant shows about 20% activity compared to the wild type enzyme
S231F
the missense phenylalanine hydroxylase gene mutation causes complete loss of enzymatic activity in vitro (residual enzyme activity in vitro is about 1%) as it drastically reduces stability and activity of the PAH enzyme, the mutant enzyme is not activated by pre-incubation with L-phenylalanine substrate
S310F
the mutation is associated with phenylketonuria
S348L
instable enzyme forming aggregates after expression in Escherichia coli in the presence of GroESL
S349A
the mutation is associated with phenylketonuria
S349P
the mutation is associated with phenylketonuria
T278I
the mutation is associated with phenylketonuria
T380M
the mutant shows about 25% activity compared to the wild type enzyme
T427P
low basal activity, little activation by preincubation with substrate, no kinetic cooperativity
T63P
the mutation is associated with phenylketonuria
V245A
the mutant shows 50% activity compared to the wild type enzyme
V245A/R261Q
the mutant shows 55% activity compared to the wild type enzyme
V379D/H264Q
the mutant shows significant activity at tyrosine hydroxylation and a 3000fold decrease in preference for phenylalanine over tyrosine as the substrate
W187X
the mutation is associated with phenylketonuria
Y138A
the mutant shows reduced catalytic efficiency (about 38%) compared to the wild type enzyme
Y138E
the mutant shows reduced catalytic efficiency (about 15%) compared to the wild type enzyme
Y138F
the mutant shows reduced catalytic efficiency (about 55%) compared to the wild type enzyme
Y138K
the mutant shows severely reduced catalytic efficiency (about 5%) compared to the wild type enzyme
Y168H
the mutation is associated with phenylketonuria
Y356X
the mutation is associated with phenylketonuria
Y386C
exon 11 A1157G mutation naturally occuring in phenylketonuria patient from the Cukurova region in Turkey, sequence determination and analysis
Y387H
the mutation is associated with phenylketonuria
Y414C/R261Q
the mutant shows 64% activity compared to the wild type enzyme
A259T
-
the mutant with wild type activity exhibits less than 50% of wild type protein level
A259V
-
the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to classic phenyletonuria
A309V
-
the mutant shows 70% of wild type activity
A322G
-
the mutant shows 75% of wild type activity
A395G
-
naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview
A434D
-
the mutation is associated with phenylketonuria
A447P
-
site-directed mutagenesis, the mutation occurs naturally in phenylketonuria patients from Korea, the mutant shows highly reduced activity compared to the wild-type
C237A
-
increase of basal activity and affinity for substrate L-phenylalanine
C237R
-
reduced activity, elimination of positive cooperativity
C237S
-
approx. 2fold higher activity than wild-type
D415N
-
naturally occuring missense mutation causing a mild phenylketonuria phenotype
DELTA1-102
-
mutant lacking the first 102 residues corresponding to the N-terminal regulatory domain. 96% of the truncated mutant exist as a tetramer. On coexpression of wild-type-hPAH and the N-terminally truncated form DELTA1-102 (~95% tetramer), heterotetramers, as a result of an assembly of two different homodimers, are isolated. The recovered (wild-type)/(DELTA1-102 mutant)-hPAH heterotetramers reveal a catalytic activity deviating significantly from that calculated by averaging the respective recombinant homotetrameric forms. The heterotetramer assembly also results in conformational changes in the WT-hPAH protomer, as detected by trypsin limited proteolysis
DELTA1-102/DELTAC24
-
mutant lacking the first 102 residues corresponding to the N-terminal regulatory domain and the last 24 residues at the C-terminal end corresponding to the tetramerisation motif. 81% of the truncated mutant exist as a dimer and 17% as an aggregated form. On co-expression of wild-type-hPAH (50% tetramer, 10% dimer) and the N- and C-terminally truncated form DELTA1-102/DELTAC24 (80% dimer) no heterodimers is recovered
DELTA103-427
-
dimeric double-truncated form: the dimeric variant 103-427 shows a Vmax (1980 nmol Tyr/min/mg protein) comparable with that of the non-activated wild-type PAH, which does not change markedly upon L-Phe preincubation (2421 nmol Tyr/min/mg protein)
E280G
-
the mutation is associated with phenylketonuria
F39L
-
the mutant has approximately 3fold higher specific activity than the wild type enzyme and leads to moderate phenyletonuria
F39L/F55fsdelT
-
naturally occuring mutation in the regulatory domain, that affects enzyme activity and causes an atypical form of phenylketonuria
F39L/P281L
-
naturally occuring mutation in the regulatory domain, that affects enzyme activity and causes the classical form of phenylketonuria
F39L/R408W
-
naturally occuring mutation in the regulatory domain, that affects enzyme activity and causes the classical form of phenylketonuria
G103S
-
site-directed mutagenesis, the mutation occurs naturally in phenylketonuria patients from Korea, the mutant shows highly reduced activity compared to the wild-type
G218V
-
the mutant shows wild type activity
G332V
-
site-directed mutagenesis, the mutation occurs naturally in phenylketonuria patients from Korea, inactive mutant
H271Q
-
naturally occuring knockout missense mutation leading to a severe phenylketonuria phenotype
I174T
-
heteromeric hPAH (wild-type + mutant) shows: significantly decreased Vmax values compared to wild-type, significantly increased Km values (substrate: S-carboxymethyl-L-cysteine or L-Phe) compared to wild-type
I174V
-
naturally occuring missense mutation causing a mild phenylketonuria phenotype
I65T/R68S
-
naturally occuring mutation in the regulatory domain, that affects enzyme activity and causes a mild form of phenylketonuria
I95F
-
naturally occuring missense mutation causing a mild phenylketonuria phenotype
I97L
-
naturally occuring mutation in the regulatory domain, that affects enzyme activity and is involved in the disorder hyperphenylalaninemia
K42I
-
the mutant shows 12% of wild type activity
L197F
-
naturally occuring knockout missense mutation leading to a severe phenylketonuria phenotype
L212P
naturally occuring mutation involved in phenylketonuria
L255V
-
the mutant shows 13% of wild type activity
L293M
-
site-directed mutagenesis, the mutation occurs naturally in phenylketonuria patients from Korea, the mutant shows reduced activity and no response to tetrahydrobiopterin compared to the wild-type
L311P
-
the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to classic phenyletonuria
L41F
-
the mutant shows 10% of wild type activity
P122Q
-
the mutant with wild type activity exhibits less than 50% of wild type protein level
P225T
-
naturally occuring knockout missense mutation leading to a severe phenylketonuria phenotype
P244L
-
the mutant shows 68% of wild type activity
P366H
-
naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview
P69S
-
site-directed mutagenesis, the mutation occurs naturally in phenylketonuria patients from Korea, the mutant shows reduced activity compared to the wild-type
Q232X
-
the mutation is associated with phenylketonuria
R111X
-
the mutation is associated with phenylketonuria
R155H
-
the mutation is associated with phenylketonuria
R157N
-
the mutant with wild type activity exhibits less than 50% of wild type protein level
R158W
-
naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview
R176X
-
the mutation is associated with phenylketonuria
R241C
-
site-directed mutagenesis, the mutation occurs naturally in humans altering the tetrahydrobiopterin responsiveness, the mutant shows reduced activity and dimer stability compared to the wild-type
R252G
-
the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to classic phenyletonuria
R252Q
-
the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to classic phenyletonuria
R261P
-
naturally occuring missense mutation causing a mild phenylketonuria phenotype
R270S
-
the mutant shows 3% of wild type activity
R313P
-
the mutation is associated with phenylketonuria
R53H
-
site-directed mutagenesis, the mutation occurs naturally in humans altering the tetrahydrobiopterin responsiveness, the mutant shows reduced activity and dimer stability compared to the wild-type
R68A
-
increase of basal activity and affinity for substrate L-phenylalanine
R68G
-
the mutant shows wild type activity
R68S/R408W
-
naturally occuring mutation in the regulatory domain, that affects enzyme activity and causes an atypical form of phenylketonuria
R68V
-
little decrease in activity
R71C
-
naturally occuring mutation in the regulatory domain, that affects enzyme activity and is involved in the disorder hyperphenylalaninemia
R86S
-
for the variants R68S and V106A, a Vmax comparable with the activated wild-type PAH is found without L-Phe preincubation, and no further increase is measured when the substrate is present. R68S and V106A without L-Phe preincubation show lower cofactor affinities than the non-activated wild-type PAH. Values are at the same level as determined for the L-Phe preincubated wild-type PAH
S391I
-
site-directed mutagenesis, the mutation occurs naturally in phenylketonuria patients from Korea, inactive mutant
T427P
-
increase in the amount of oligomeric forms higher than tetramers after preincubation of a mixture of dimeric and tetrameric forms with phenylalanine, tetrameric form exhibits approx. 50% of wild-type tetramer phenylalanine hydroxylase activity
V106A
-
for the variants R68S and V106A, a Vmax comparable with the activated wild-type PAH is found without L-Phe preincubation, and no further increase is measured when the substrate is present. R68S and V106A without L-Phe preincubation show lower cofactor affinities than the non-activated wild-type PAH. Values are at the same level as determined for the L-Phe preincubated wild-type PAH
Y166X
-
the mutation is associated with phenylketonuria
Y325L
-
stable, similar yields and oligomeric distribution as wild-type, reduced specific activity, decreased coupling efficiency and decreased iron content, no positive cooperativity for L-phenylalanine
Y325S
-
aggregation after purification, not suitable for characterization
Y356X
-
the mutation is associated with phenylketonuria
A300S
the mutation is associated with phenylketonuria
A300S
the mutant shows 31% activity compared to the wild type enzyme
A313T
the mutant displays 20-30% lower catalytic activity than the wild type enzyme
A313T
the mutation leads to thermodynamic stability change upon folding
E178G
exon 6 A533G mutation naturally occuring in phenylketonuria patients from the Cukurova region in Turkey, sequence determination and analysis
E178G
the mutant shows 39% activity compared to the wild type enzyme
E390G
the mutation is associated with phenylketonuria
E390G
the mutant shows 62% activity compared to the wild type enzyme
G46S
the mutation is associated with phenylketonuria
G46S
the mutant enzyme shows reduced activity compared to the wild type
G46S
the mutant shows lower allosteric Phe-binding ability compared to the wild type enzyme
G46S
the mutation causes phenylketonuria
I65S
the mutation is associated with phenylketonuria
I65S
the mutant enzyme shows reduced activity compared to the wild type
I65T
naturally occuring mutation involved in hyperphenylalaninemia of heterozygous patients, sequence analysis, the heterologous mutant shows reduced activity compared to the wild-type enzyme
I65T
site-directed mutagenesis, the mutant shows reduced activity compared to the wild-type enzyme, but the mutant can be rescued by co-expression of chaperones GroEL and GroES
I65T
the mutant shows increased specific activity using L-phenylalanine as substrate and decreased specific activity using S-carboxymethyl-L-cysteine compared to the wild type enzyme
I65T
the mutation is associated with phenylketonuria
I65T
the S-oxidation of S-carboxymethyl-L-cysteine is dramatically reduced in the 5,6,7,8-tetrahydro-L-biopterin responsive mutant I65T possessing 1.2-2.0% of the wild type PAH activity when S-carboxymethyl-L-cysteine is used as substrate and expressing 23-76% of the wild type PAH activity when L-phenylalanine is used as the substrate
I65T
the mutant enzyme shows reduced activity compared to the wild type
I65T
the mutant shows 33% activity compared to the wild type enzyme
L249F
the mutation is associated with phenylketonuria
L249F
the mutant shows about 55% activity compared to the wild type enzyme
L249P
the mutation is associated with phenylketonuria
L249P
the mutant shows about 5% activity compared to the wild type enzyme
L348V
25% activity after expression in Escherichia coli in the absence of GroESL, 55% in the presence of GroESL, 77% activity after expression in COS cells at 27°C
L348V
the mutant retains significant catalytic activity yet is observed in classic and moderate phenylketonuria patients
L348V
the mutation is associated with phenylketonuria
L48S
the mutation is associated with phenylketonuria
L48S
the mutant shows 39% activity compared to the wild type enzyme
P281L
exon 7 C842T mutation naturally occuring in phenylketonuria patient from the Cukurova region in Turkey, sequence determination and analysis
P281L
the mutation is associated with phenylketonuria
R158Q
the mutation is associated with phenylketonuria
R158Q
the mutation results in the classical phenylketonuria phenotype expressing 0.2-1.8% of the wild type PAH activity when using L-phenylalanine as substrate, and has less 0.1% of the wild type PAH activity when S-carboxymethyl-L-cysteine is used as the substrate
R158Q
the mutant shows 10% activity compared to the wild type enzyme
R243Q
exon 7 G728A mutation naturally occuring in phenylketonuria patient from the Cukurova region in Turkey, sequence determination and analysis
R243Q
the mutation is associated with phenylketonuria
R261Q
exon 7 G728A mutation naturally occuring in phenylketonuria patients from the Cukurova region in Turkey, sequence determination and analysis, second most found mutation within 23 patients
R261Q
naturally occuring mutation involved in hyperphenylalaninemia of heterozygous patients, sequence analysis, the heterologous mutant shows reduced activity compared to the wild-type enzyme
R261Q
site-directed mutagenesis, the mutant shows reduced activity compared to the wild-type enzyme, but the mutant can be rescued by co-expression of chaperones GroEL and GroES
R261Q
the mutant shows decreased specific activity using L-phenylalanine and S-carboxymethyl-L-cysteine as substrate compared to the wild type enzyme
R261Q
the mutation is associated with phenylketonuria
R261Q
the S-oxidation of S-carboxymethyl-L-cysteine is dramatically reduced in the 5,6,7,8-tetrahydro-L-biopterin responsive mutant I65T possessing 1.2-2.0% of the wild type PAH activity when S-carboxymethyl-L-cysteine is used as substrate and expressing 23-76% of the wild type PAH activity when L-phenylalanine is used as the substrate
R261Q
the mutant shows 44% activity compared to the wild type enzyme
R270K
expression in the presence of the chemical chaperone glycerol enhances activity after purification
R270K
naturally occuring mutation involved in hyperphenylalaninemia of heterozygous patients, sequence analysis, the heterologous mutant shows reduced activity compared to the wild-type enzyme
R270K
site-directed mutagenesis, the mutant shows reduced activity compared to the wild-type enzyme, but the mutant can be rescued by co-expression of chaperones GroEL and GroES
R270K
the mutation is associated with phenylketonuria
R270K
the mutant shows about 15% activity compared to the wild type enzyme
R408Q
the mutation is associated with phenylketonuria
R408Q
the mutant shows 46% activity compared to the wild type enzyme
R408W
exon 12 C1222T mutation naturally occuring in phenylketonuria patient from the Cukurova region in Turkey, sequence determination and analysis
R408W
the mutant is dysfunctional in nearly all biochemical parameters, as evidenced by disease severity in homozygous and hemizygous patients
R408W
the mutation is associated with phenylketonuria
R408W
the mutation results in the classical phenylketonuria phenotype expressing 0.2-1.8% of the wild type PAH activity when using L-phenylalanine as substrate, and has less 0.1% of the wild type PAH activity when S-carboxymethyl-L-cysteine is used as the substrate
R408W
the mutant shows 2% activity compared to the wild type enzyme
R408W/R158Q
the mutant shows 5% residual activity compared to the wild type enzyme
R408W/R158Q
the mutant shows 4% activity compared to the wild type enzyme
R68S
the mutant shows decreased specific activity using L-phenylalanine and S-carboxymethyl-L-cysteine as substrate compared to the wild type enzyme
R68S
the S-oxidation of S-carboxymethyl-L-cysteine is dramatically reduced in the 5,6,7,8-tetrahydro-L-biopterin responsive mutant I65T possessing 1.2-2.0% of the wild type PAH activity when S-carboxymethyl-L-cysteine is used as substrate and expressing 23-76% of the wild type PAH activity when L-phenylalanine is used as the substrate
V388M
40% activity after expression in Escherichia coli in the absence of GroESL, 82% in the presence of GroESL, 78% activity after expression in COS cells at 27°C
V388M
expression in the presence of the chemical chaperone glycerol enhances activity after purification
V388M
naturally occuring mutation involved in hyperphenylalaninemia of heterozygous patients, sequence analysis, the heterologous mutant shows reduced activity compared to the wild-type enzyme
V388M
site-directed mutagenesis, the mutant shows reduced activity compared to the wild-type enzyme, but the mutant can be rescued by co-expression of chaperones GroEL and GroES
V388M
the mutant shows decreased specific activity using L-phenylalanine and S-carboxymethyl-L-cysteine as substrate compared to the wild type enzyme
V388M
the mutation is associated with phenylketonuria
V388M
the S-oxidation of S-carboxymethyl-L-cysteine is dramatically reduced in the 5,6,7,8-tetrahydro-L-biopterin responsive mutant I65T possessing 1.2-2.0% of the wild type PAH activity when S-carboxymethyl-L-cysteine is used as substrate and expressing 23-76% of the wild type PAH activity when L-phenylalanine is used as the substrate
Y204C
the mutation is associated with phenylketonuria
Y204C
the mutant shows wild type activity
Y414C
the mutant shows decreased specific activity using L-phenylalanine and S-carboxymethyl-L-cysteine as substrate compared to the wild type enzyme
Y414C
the mutation is associated with phenylketonuria
Y414C
the S-oxidation of S-carboxymethyl-L-cysteine is dramatically reduced in the 5,6,7,8-tetrahydro-L-biopterin responsive mutant I65T possessing 1.2-2.0% of the wild type PAH activity when S-carboxymethyl-L-cysteine is used as substrate and expressing 23-76% of the wild type PAH activity when L-phenylalanine is used as the substrate
Y414C
the mutant shows 57% activity compared to the wild type enzyme
A104D
-
naturally occuring mutation in the regulatory domain, that affects enzyme activity and is involved in the disorder hyperphenylalaninemia
A104D
-
the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to mild phenyletonuria
A300S
-
naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview
A300S
-
the mutation is associated with phenylketonuria
A403V
-
frequent naturally occuring mutation involved in enzyme deficiency and BH4-responsive hyperphenylalaninemia and/or phenylketonuria
A403V
-
naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview
A403V
-
the mutant shows wild type activity
A403V
-
the mutation leads to mild phenyletonuria
C237D
-
approx. 3fold higher activity than wild-type
C237D
-
increase of basal activity and affinity for substrate L-phenylalanine
E280K
-
inactive
E280K
-
the mutation is associated with phenylketonuria
E280K
-
the mutant shows 2% of wild type activity
E76G
-
the mutant shows 85% of wild type activity
E76G
-
the mutant shows 65% of wild type activity
F161S
-
the mutation is associated with phenylketonuria
F161S
-
the mutant with wild type activity exhibits less than 50% of wild type protein level
G247V
-
the mutation is associated with phenylketonuria
G247V
-
the mutant shows 4% of wild type activity
G46S
-
naturally occuring mutation in the regulatory domain, that affects enzyme activity and is involved in the disorder hyperphenylalaninemia
G46S
-
the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to classic phenyletonuria
I65T
-
22% of wild-type phenylalanine hydroxylase activity
I65T
-
frequent naturally occuring mutation involved in enzyme deficiency and BH4-responsive hyperphenylalaninemia and/or phenylketonuria
I65T
-
the mutation is associated with phenylketonuria
I65T
-
heteromeric hPAH (wild-type + mutant) shows: significantly decreased Vmax values compared to wild-type, significantly increased Km values (substrate: S-carboxymethyl-L-cysteine) no difference in Km (L-Phe) compared to wild-type
I65T
-
the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to moderate phenyletonuria
I65T/R408W
-
naturally occuring mutation in the regulatory domain, that affects enzyme activity and causes the classical form of phenylketonuria
I65T/R408W
naturally occuring mutation involved in phenylketonuria
L255S
-
the mutation is associated with phenylketonuria
L255S
-
the mutant shows 3% of wild type activity
L348V
-
the mutation is associated with phenylketonuria
L348V
-
the mutant shows 38% of wild type activity
L48S
-
frequent naturally occuring mutation involved in enzyme deficiency and BH4-responsive hyperphenylalaninemia and/or phenylketonuria
L48S
-
naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview
L48S
-
the mutant has approximately 3fold higher specific activity than the wild type enzyme and leads to moderate phenyletonuria
P281L
-
inactive
P281L
-
naturally occuring missense mutation causing a severe phenylketonuria phenotype
P281L
-
naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview
P281L
-
the mutation is associated with phenylketonuria
R158Q
-
naturally occuring missense mutation causing a severe phenylketonuria phenotype
R158Q
-
the mutation is associated with phenylketonuria
R158Q
-
heteromeric hPAH (wild-type + mutant) shows: significantly decreased Vmax values compared to wild-type, significantly increased Km values (substrate: S-carboxymethyl-L-cysteine or L-Phe) compared to wild-type
R158Q
-
the mutation leads to mild phenyletonuria
R243Q
-
site-directed mutagenesis, the common mutation occurs naturally in phenylketonuria patients from east asia, the mutant shows reduced activity compared to the wild-type, the mutation affects hydrogen binding between the amide nitrogen of R243 and the carbonyl oxygen of Asp129
R243Q
-
the mutation is associated with phenylketonuria
R243Q
-
the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to classic phenyletonuria
R252W
-
naturally occuring missense mutation causing a severe phenylketonuria phenotype
R252W
-
the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to classic phenyletonuria
R261Q
-
31% of wild-type phenylalanine hydroxylase activity
R261Q
-
frequent naturally occuring mutation involved in enzyme deficiency and BH4-responsive hyperphenylalaninemia and/or phenylketonuria
R261Q
-
naturally occuring missense mutation causing a severe phenylketonuria phenotype
R261Q
-
naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview
R261Q
naturally occuring mutation involved in phenylketonuria
R261Q
-
the mutation is associated with phenylketonuria
R261Q
-
heteromeric hPAH (wild-type + mutant) shows: significantly decreased Vmax values compared to wild-type, significantly increased Km values (substrate: S-carboxymethyl-L-cysteine) no difference in Km (L-Phe) compared to wild-type
R261Q
-
the mutation leads to 29% of wild type activity and moderate phenyletonuria
R408Q
-
site-directed mutagenesis, the mutation occurs naturally in humans altering the tetrahydrobiopterin responsiveness, the mutant shows reduced activity and dimer stability compared to the wild-type
R408Q
-
the mutant shows 84% of wild type activity
R408W
-
naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview
R408W
naturally occuring mutation involved in phenylketonuria
R408W
-
the mutation is associated with phenylketonuria
R408W
-
heteromeric hPAH (wild-type + mutant) shows: significantly decreased Vmax values compared to wild-type, significantly increased Km values (substrate: S-carboxymethyl-L-cysteine or L-Phe) compared to wild-type
R408W
-
the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to classic phenyletonuria
R413P
-
site-directed mutagenesis, the common mutation occurs naturally in phenylketonuria patients from east asia, the mutant shows reduced activity compared to the wild-type
R413P
-
the mutant shows 3% of wild type activity
R68S
-
heteromeric hPAH (wild-type + mutant) shows: significantly decreased Vmax values compared to wild-type, significantly increased Km values (substrate: S-carboxymethyl-L-cysteine) no difference in Km (L-Phe) compared to wild-type
R68S
-
the mutant shows 98% of wild type activity
S349P
-
inactive
S349P
-
naturally occuring missense mutation causing a severe phenylketonuria phenotype
S349P
-
the mutant shows 1% of wild type activity
V388M
-
30% of wild-type phenylalanine hydroxylase activity
V388M
-
heteromeric hPAH (wild-type + mutant) shows: significantly decreased Vmax values compared to wild-type, significantly increased Km values (substrate: S-carboxymethyl-L-cysteine or L-Phe) compared to wild-type
Y325A
-
high degree of aggregation, but suffivcient tetrameric form for characterization
Y325A
-
no enzymic activity, aggregation of protein
Y325F
-
kinetics, thermal stability, oligomerization profile similar to wild-type
Y325F
-
stable, similar yields and oligomeric distribution as wild-type, posttranslational hydroxylation
Y414C
-
frequent naturally occuring mutation involved in enzyme deficiency and BH4-responsive hyperphenylalaninemia and/or phenylketonuria
Y414C
-
heteromeric hPAH (wild-type + mutant) shows: significantly decreased Vmax values compared to wild-type, significantly increased Km values (substrate: S-carboxymethyl-L-cysteine or L-Phe) compared to wild-type
Y414C
-
the mutation leads to 1% of wild type activity and classic phenyletonuria
additional information
arginine mutations are important for the evolutionary structure and function of the phenylalanine hydroxylase gene, phenylketonuria patients from the Cukurova region in Turkey show in 50% of investigated alleles the IvsVS10-11g splicing mutation, overview
additional information
-
arginine mutations are important for the evolutionary structure and function of the phenylalanine hydroxylase gene, phenylketonuria patients from the Cukurova region in Turkey show in 50% of investigated alleles the IvsVS10-11g splicing mutation, overview
additional information
identification of mutations, that alter the interaction of subunits, which could be a source of phenotypic variation in genetic diseases involving multimeric proteins, e.g. in hypephenylalaninemia, overview
additional information
-
identification of mutations, that alter the interaction of subunits, which could be a source of phenotypic variation in genetic diseases involving multimeric proteins, e.g. in hypephenylalaninemia, overview
additional information
calculation and computational modeling of the probability that a mutation or an amino acid change in certain positions lead to phenylketonuria to improve clinical monitoring, diagnosis, prognosis and treatment, overview
additional information
hyperphenylalaninemia is a group of autosomal recessive disorders caused by a wide range of PAH gene variants, identification of 5 human variants in a Southern Italian population, genotyping, overview
additional information
-
hyperphenylalaninemia is a group of autosomal recessive disorders caused by a wide range of PAH gene variants, identification of 5 human variants in a Southern Italian population, genotyping, overview
additional information
-
mutant p.R68S, reduced apparent and equilibrium binding affinity for tetrahydrobiopterin, increased affinity and non-cooperative response for L-phenylalanine, strong substrate inhibition
additional information
-
N-terminal deletion of amino acid residues 1-102, reduction of Hill coefficient, square-wave pattern of surface plasmon resonance response. N-terminal deletion of amino acid residues 1-102 plus C-terminal deletion of amino acid residues 428-452, reduction of Hill coefficient, square-wave pattern of surface plasmon resonance response. C-terminal deletion of amino acid residues 428-452, surface plasmon resonance signal similar to wild-type
additional information
-
N-terminal deletion of amino acid residues 1-116, kinetics, thermal stability, oligomerization profile similar to wild-type. N-terminal deletion of amino acid residues 1-116 plus mutation Y325F, 3fold reduction in kcat-value
additional information
-
identification of naturally occuring missense mutations of the PHA gene involved in phenylketonuria, an autosomal recessive metabolic disease caused by PHA deficiency, the mutants show residual or no catalytic activity
additional information
-
determination of mutations in gene pah in patients with phenylketonuria in different Israelian populations, genotyping, genotype-phenotype correlation, overview
additional information
-
determination of mutations in gene pah in patients with phenylketonuria, screening and genotyping, genotype-phenotype correlation in the different ethnic groups of Israel, responsiveness of mutants to tetrahydrobiopterin treatment, overview
additional information
-
enzyme mutation can lead to tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. BH4 responsiveness in hyperphenylalaninaemia depends on the patient's genotype and residual PAH activity, of patients with moderate and classic forms of phenylketonuria, only a few are classified as responders and the clinical significance of the effect size may be small, molecular mechanism, phenotypes and clinical treatment, overview
additional information
-
identification of 57 mutations in a wide range genotyping, the mutants show substantial residual PAH activity, average 47%, presumed to be associated with BH4-responsiveness, genotyping, genotype-phenotype correlation, overview
additional information
-
identification of mutations involved in hyperphenylalaninemia and/or in phenylketonuria, genotyping of a Southern Italian population, overview
additional information
-
mutations in the pah gene can lead to phenylketonuria, patients respond to treatment with tetrahydrobiopterin, the extent depends on the type of disorder, phenotypes, overview
additional information
-
phenylketonuria results from a mutation in the liver enzyme phenylalanine hydroxylase, the disease is correlated with high and persistent levels of Phe in the plasma plasma of PKU patients causing permanent neurological damage. Construction of PAH-based fusion proteins with delivery moieties based on the HIV-transactivator of transcription peptide, and fragments of human hepatocyte growth factor, i.e. N-terminal and first, second, and third kringle domains, respectively, of HGF, aiming to specifically target PAH to the liver, which retain PAH activity after being internalized into liver cells, effects of the transgenic construct in HuH7, HepG2, and Colo205 cells
additional information
phenylketonuria, PKU, results from mutations in the pah gene and is characterized by elevated phenylalanine levels in the plasma, the specific category of PKU since classical PKU requires a stringent diet while milder categories may not require diet and a very important BH4-responsive category may be treated with the PAH cofactor 6R-tetrahydrobiopterin, there is a close genotype-phenotype correlation in PKU, so genotyping is very important for diagnosis and therapy, overview
additional information
-
phenylketonuria, PKU, results from mutations in the pah gene and is characterized by elevated phenylalanine levels in the plasma, the specific category of PKU since classical PKU requires a stringent diet while milder categories may not require diet and a very important BH4-responsive category may be treated with the PAH cofactor 6R-tetrahydrobiopterin, there is a close genotype-phenotype correlation in PKU, so genotyping is very important for diagnosis and therapy, overview
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Kaufman, S.
Aromatic amino acid hydroxylases
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A comparison of kinetic and regulatory properties of the tetrameric and dimeric forms of wild-type and Thr427->Pro mutant human phenylalanine hydroxylase. Contribution of the flexible hinge region Asp425-Gln429 to the tetramerization and cooperative substrate binding
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The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: An isothermal titration calorimetry study
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Co-expression of different subunits of human phenylalanine hydroxylase: Evidence of negative interallelic complementation
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2006
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Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene
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Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement
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The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene
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601
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The reaction mechanism of phenylalanine hydroxylase. - A question of coordination
Pteridines
16
27-34
2005
Chromobacterium violaceum, Homo sapiens, Rattus norvegicus
-
brenda
Siltberg-Liberles, J.; Martinez, A.
Searching distant homologs of the regulatory ACT domain in phenylalanine hydroxylase
Amino Acids
36
235-249
2008
Homo sapiens
brenda
Daniele, A.; Cardillo, G.; Pennino, C.; Carbone, M.T.; Scognamiglio, D.; Correra, A.; Pignero, A.; Castaldo, G.; Salvatore, F.
Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations
Ann. Hum. Genet.
71
185-193
2007
Homo sapiens
brenda
Bercovich, D.; Elimelech, A.; Yardeni, T.; Korem, S.; Zlotogora, J.; Gal, N.; Goldstein, N.; Vilensky, B.; Segev, R.; Avraham, S.; Loewenthal, R.; Schwartz, G.; Anikster, Y.
A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population
Ann. Hum. Genet.
72
305-309
2008
Homo sapiens
brenda
Daniele, A.; Cardillo, G.; Pennino, C.; Carbone, M.T.; Scognamiglio, D.; Esposito, L.; Correra, A.; Castaldo, G.; Zagari, A.; Salvatore, F.
Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants
Biochim. Biophys. Acta
1782
378-384
2008
Homo sapiens (P00439), Homo sapiens
brenda
Wang, L.; Surendran, S.; Michals-Matalon, K.; Bhatia, G.; Tanskley, S.; Koch, R.; Grady, J.; Tyring, S.K.; Stevens, R.C.; Guttler, F.; Matalon, R.
Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin
Genet. Test.
11
174-178
2007
Homo sapiens
brenda
Zurflueh, M.R.; Zschocke, J.; Lindner, M.; Feillet, F.; Chery, C.; Burlina, A.; Stevens, R.C.; Thoeny, B.; Blau, N.
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
Hum. Mutat.
29
167-175
2008
Homo sapiens
brenda
Eavri, R.; Lorberboum-Galski, H.
A novel approach for enzyme replacement therapy. The use of phenylalanine hydroxylase-based fusion proteins for the treatment of phenylketonuria
J. Biol. Chem.
282
23402-23409
2007
Homo sapiens
brenda
Yan, S.; Wu, G.
Connecting mutant phenylalanine hydroxylase with phenylketonuria
J. Clin. Monit. Comput.
22
333-342
2008
Homo sapiens (P00439)
brenda
Patel, N.G.; Iliadou, C.; Boonyapiwat, B.; Barlow, D.J.; Forbes, B.; Mitchell, S.C.; Steventon, G.B.
Enzyme kinetic and molecular modelling studies of sulphur-containing substrates of phenylalanine 4-monooxygenase
J. Enzyme Inhib. Med. Chem.
23
958-63
2007
Homo sapiens, Rattus norvegicus
brenda
Bercovich, D.; Elimelech, A.; Zlotogora, J.; Korem, S.; Yardeni, T.; Gal, N.; Goldstein, N.; Vilensky, B.; Segev, R.; Avraham, S.; Loewenthal, R.; Schwartz, G.; Anikster, Y.
Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene
J. Hum. Genet.
53
407-418
2008
Homo sapiens
brenda
Gramer, G.; Burgard, P.; Garbade, S.F.; Lindner, M.
Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia
J. Inherit. Metab. Dis.
30
556-562
2007
Homo sapiens
brenda
Dobrowolski, S.F.; Ellingson, C.; Coyne, T.; Grey, J.; Martin, R.; Naylor, E.W.; Koch, R.; Levy, H.L.
Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles
Mol. Genet. Metab.
91
218-227
2007
Homo sapiens (Q8TEY0), Homo sapiens
brenda
Okano, Y.; Takatori, K.; Kudo, S.; Sakaguchi, T.; Asada, M.; Kajiwara, M.; Yamano, T.
Effects of tetrahydrobiopterin and phenylalanine on in vivo human phenylalanine hydroxylase by phenylalanine breath test
Mol. Genet. Metab.
92
308-314
2007
Homo sapiens
brenda
Nascimento, C.; Leandro, J.; Tavares de Almeida, I.; Leandro, P.
Modulation of the activity of newly synthesized human phenylalanine hydroxylase mutant proteins by low-molecular-weight compounds
Protein J.
27
392-400
2008
Homo sapiens (P00439), Homo sapiens
brenda
Boonyapiwat, B.; Forbes, B.; Mitchell, S.; Steventon, G.B.
Phenylalanine 4-monooxygenase and the S-oxidation of S-carboxymethyl-L-cysteine by human cytosolic fractions
Drug Metabol. Drug Interact.
23
261-282
2008
Homo sapiens
brenda
Lee, Y.W.; Lee, D.H.; Kim, N.D.; Lee, S.T.; Ahn, J.Y.; Choi, T.Y.; Lee, Y.K.; Kim, S.H.; Kim, J.W.; Ki, C.S.
Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria
Exp. Mol. Med.
40
533-540
2008
Homo sapiens (P00439), Homo sapiens
brenda
Steventon, G.B.; Mitchell, S.C.
Phenylalanine 4-monooxygenase and the role of endobiotic metabolism enzymes in xenobiotic biotransformation
Expert. Opin. Drug Metab. Toxicol.
5
1213-1221
2009
Rattus norvegicus, Homo sapiens (P00439), Homo sapiens
brenda
Brenner, E.; Smagulova, F.; Morozov, I.
Independent origin of rare Y168H mutation of human phenylalanine hydroxylase gene in Russia
Genetika
44
1435-1437
2008
Homo sapiens (P00439), Homo sapiens
brenda
Patel, N.; Iliadou, C.; Boonyapiwat, B.; Barlow, D.; Forbes, B.; Mitchell, S.; Steventon, G.
Enzyme kinetic and molecular modelling studies of sulphur-containing substrates of phenylalanine 4-monooxygenase
J. Enzyme Inhib. Med. Chem.
23
958-963
2008
Homo sapiens, Rattus norvegicus
brenda
Dobrowolski, S.F.; Borski, K.; Ellingson, C.C.; Koch, R.; Levy, H.L.; Naylor, E.W.
A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin
J. Hum. Genet.
54
335-339
2009
Homo sapiens
brenda
Dobrowolski, S.F.; Pey, A.L.; Koch, R.; Levy, H.; Ellingson, C.C.; Naylor, E.W.; Martinez, A.
Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients
J. Inherit. Metab. Dis.
32
10-21
2009
Homo sapiens (P00439), Homo sapiens
brenda
Boonyapiwat, B.; Panaretou, B.; Forbes, B.; Mitchell, S.C.; Steventon, G.B.
Human phenylalanine monooxygenase and thioether metabolism
J. Pharm. Pharmacol.
61
63-67
2009
Homo sapiens (P00439), Homo sapiens
brenda
Bik-Multanowski, M.; Pietrzyk, J.; Didycz, B.; Szymczakiewicz-Multanowska, A.
Development of a model for assessment of phenylalanine hydroxylase activity in newborns with phenylketonuria receiving tetrahydrobiopterin: A potential for practical implementation
Mol. Genet. Metab.
94
389-390
2008
Homo sapiens (P00439)
brenda
Steventon, G.B.; Mitchell, S.C.; Perez, B.; Desviat, L.R.; Ugarte, M.
The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-L-cysteine
Mol. Genet. Metab.
96
27-31
2009
Homo sapiens (P00439), Homo sapiens
brenda
Stojiljkovic, M.; Perez, B.; Desviat, L.R.; Aguado, C.; Ugarte, M.; Pavlovic, S.
The missense p.S231F phenylalanine hydroxylase gene mutation causes complete loss of enzymatic activity in vitro
Protein J.
28
294-299
2009
Homo sapiens (P00439), Homo sapiens
brenda
Leandro, J.; Leandro, P.; Flatmark, T.
Heterotetrameric forms of human phenylalanine hydroxylase: co-expression of wild-type and mutant forms in a bicistronic system
Biochim. Biophys. Acta
1812
602-612
2011
Homo sapiens
brenda
Gersting, S.W.; Staudigl, M.; Truger, M.S.; Messing, D.D.; Danecka, M.K.; Sommerhoff, C.P.; Kemter, K.F.; Muntau, A.C.
Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor
J. Biol. Chem.
285
30686-30697
2010
Homo sapiens
brenda
Boonyapiwat, B.; Mitchell, S.; Steventon, G.
Recombinant heteromeric phenylalanine monooxygenase and the oxygenation of carbon and sulfur substrates
J. Pharm. Pharmacol.
63
558-564
2011
Homo sapiens
brenda
Antypa, A.; Rebello, C.; Biernacka, A.; Krajewski, K.; Cassam, J.; Mitchell, S.C.; Steventon, G.B.
Post-translational activation of human phenylalanine 4-monooxygenase from an endobiotic to a xenobiotic enzyme by reactive oxygen and reactive nitrogen species
Xenobiotica
40
319-330
2010
Homo sapiens
brenda
Jaffe, E.K.; Stith, L.; Lawrence, S.H.; Andrake, M.; Dunbrack, R.L.
A new model for allosteric regulation of phenylalanine hydroxylase: implications for disease and therapeutics
Arch. Biochem. Biophys.
530
73-82
2013
Homo sapiens, Rattus norvegicus (P04176)
brenda
Daubner, S.C.; Avila, A.; Bailey, J.O.; Barrera, D.; Bermudez, J.Y.; Giles, D.H.; Khan, C.A.; Shaheen, N.; Thompson, J.W.; Vasquez, J.; Oxley, S.P.; Fitzpatrick, P.F.
Mutagenesis of a specificity-determining residue in tyrosine hydroxylase establishes that the enzyme is a robust phenylalanine hydroxylase but a fragile tyrosine hydroxylase
Biochemistry
52
1446-1455
2013
Homo sapiens (P00439)
brenda
Flydal, M.I.; Martinez, A.
Phenylalanine hydroxylase: function, structure, and regulation
IUBMB Life
65
341-349
2013
Caenorhabditis elegans, Legionella pneumophila, Homo sapiens (P00439), Homo sapiens, Rattus norvegicus (P04176), Chromobacterium violaceum (P30967), Colwellia psychrerythraea (Q47XN7), Legionella pneumophila 130b
brenda
Carluccio, C.; Fraternali, F.; Salvatore, F.; Fornili, A.; Zagari, A.
Structural features of the regulatory ACT domain of phenylalanine hydroxylase
PLoS ONE
8
e79482
2013
Homo sapiens (P00439), Homo sapiens
brenda
Shi, Z.; Sellers, J.; Moult, J.
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase
Proteins
80
61-70
2012
Homo sapiens
brenda
Hayakawa, D.; Yamaotsu, N.; Nakagome, I.; Ozawa, S.I.; Yoshida, T.; Hirono, S.
In silico analyses of the effects of a point mutation and a pharmacological chaperone on the thermal fluctuation of phenylalanine hydroxylase
Biophys. Chem.
228
47-54
2017
Homo sapiens (P00439)
brenda
Ramirez, A.M.; Rodriguez-Lopez, A.; Ardila, A.; Beltran, L.; Patarroyo, C.A.; Melendez, A.D.P.; Sanchez, O.F.; Almeciga-Diaz, C.J.
Production of human recombinant phenylalanine hydroxylase in Lactobacillus plantarum for gastrointestinal delivery
Eur. J. Pharm. Sci.
109
48-55
2017
Homo sapiens (P00439), Homo sapiens
brenda
Leandro, J.; Stokka, A.J.; Teigen, K.; Andersen, O.A.; Flatmark, T.
Substituting Tyr138 in the active site loop of human phenylalanine hydroxylase affects catalysis and substrate activation
FEBS Open Bio
7
1026-1036
2017
Homo sapiens (P00439), Homo sapiens
brenda
Leandro, J.; Saraste, J.; Leandro, P.; Flatmark, T.
PKU mutation p.G46S prevents the stereospecific binding of L-phenylalanine to the dimer of human phenylalanine hydroxylase regulatory domain
FEBS open bio
7
195-203
2017
Homo sapiens (P00439), Homo sapiens
brenda
Pecimonova, M.; Polak, E.; Csicsay, F.; Reblova, K.; Stojiljkovic, M.; Levarski, Z.; Skultety, L.; Kadasi, L.; Soltysova, A.
Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase
Gen. Physiol. Biophys.
36
361-371
2017
Homo sapiens (P00439), Homo sapiens
brenda
Yu, W.; He, J.; Yang, X.; Zou, H.; Gui, J.; Wang, R.; Yang, L.; Wang, Z.; Lei, Q.
Characterization of phenylalanine hydroxylase gene mutations in phenylketonuria in Xinjiang of China
Int. J. Clin. Exp. Med.
7
4406-4412
2014
Homo sapiens
brenda
Meisburger, S.P.; Taylor, A.B.; Khan, C.A.; Zhang, S.; Fitzpatrick, P.F.; Ando, N.
Domain movements upon activation of phenylalanine hydroxylase characterized by crystallography and chromatography-coupled small-angle X-ray scattering
J. Am. Chem. Soc.
138
6506-6516
2016
Homo sapiens (P00439), Rattus norvegicus (P04176)
brenda
Chadha, N.; Tiwari, A.K.; Kumar, V.; Milton, M.D.; Mishra, A.K.
In silico thermodynamics stability change analysis involved in BH4 responsive mutations in phenylalanine hydroxylase QM/MM and MD simulations analysis
J. Biomol. Struct. Dyn.
33
573-583
2015
Homo sapiens (P00439)
brenda
Carluccio, C.; Fraternali, F.; Salvatore, F.; Fornili, A.; Zagari, A.
Towards the identification of the allosteric Phe-binding site in phenylalanine hydroxylase
J. Biomol. Struct. Dyn.
34
497-507
2016
Cupriavidus necator, Pseudomonas aeruginosa, Pseudomonas putida, Pseudomonas fluorescens, Xanthomonas campestris, Homo sapiens (P00439), Homo sapiens
brenda
Reblova, K.; Kulhanek, P.; Fajkusova, L.
Computational study of missense mutations in phenylalanine hydroxylase
J. Mol. Model.
21
70
2015
Homo sapiens (P00439)
brenda
Baruteau, J.; Nyabi, O.; Najimi, M.; Fauvart, M.; Sokal, E.
Adult human liver mesenchymal progenitor cells express phenylalanine hydroxylase
J. Pediatr. Endocrinol. Metab.
27
863-868
2014
Homo sapiens (P00439), Homo sapiens
brenda
Shen, N.; Heintz, C.; Thiel, C.; Okun, J.G.; Hoffmann, G.F.; Blau, N.
Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation
Mol. Genet. Metab.
117
328-335
2016
Homo sapiens (P00439), Homo sapiens
brenda
Fuchs, J.; Fuchs, D.; Liedl, K.
Dynamic regulation of phenylalanine hydroxylase
Pteridines
25
33-39
2014
Homo sapiens
-
brenda
Patel, D.; Kopec, J.; Fitzpatrick, F.; McCorvie, T.J.; Yue, W.W.
Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain
Sci. Rep.
6
23748
2016
Homo sapiens (P00439), Homo sapiens
brenda