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Disease on EC 1.14.16.1 - phenylalanine 4-monooxygenase and Organism(s) Homo sapiens and UniProt Accession P00439

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
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.
[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.
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.
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.
A New View of Bone Loss in Phenylketonuria.
Mesenchymal stem cell energy deficit and oxidative stress contribute to osteopenia in the Pahenu2 classical PKU mouse.
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.
Amplification and expression of phenylalanine hydroxylase in mouse erythroleukemia cells.
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.
Cell density dependent regulation of phenylalanine hydroxylase activity in hepatoma cells. Evidence for both an active and inactive enzyme form.
Constancy of expression of the protein kinase A regulatory subunit R1 alpha in hepatoma cell lines of different phenotypes.
Control of phenylalanine hydroxylase synthesis in tissue culture by serum and insulin.
Correlation of phenylalanine hydroxylase activity with cell density in cultured hepatoma cells.
DNA-mediated restoration of phenylalanine hydroxylase gene expression in enzyme-deficient derivatives of enzyme-constitutive mouse cell hybrids.
Effect of serum on phenylalanine hydroxylase levels in cultured hepatoma cells.
Epigenetic activation of phenylalanine hydroxylase in mouse erythroleukemia cells by the cytoplast of rat hepatoma cells.
Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model.
Genetics of mammalian phenylalanine hydroxylase system. IV. Evidence of phenylalanine hydroxylase in a cultured human hepatoma cell line.
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.
Genetics of the mammalian phenylalanine hydroxylase system: I. Isolation of phenylalanine hydroxylase-deficient tyrosine auxotrophs from rat hepatoma cells.
Glucocorticoid stimulation of tetrahydrobiopterin levels and phenylalanine hydroxylase activity in rat hepatoma cells.
Hydrocortisone induction of phenylalanine hydroxylase isozymes in cultured hepatoma cells.
Immunocytochemical identification of phenylalanine hydroxylase and albumin in cultured hepatoma cells and isolated rat hepatocytes.
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.
Measurement of phenylalanine hydroxylase turnover in cultured hepatoma cells.
Mechanism of inactivation of phenylalanine hydroxylase by p-chlorophenylalanine in hepatome cells in culture. Two possible models.
Molecular basis of phenylketonuria and recombinant DNA strategies for its therapy.
P-chlorophenylalanine does not inhibit production of recombinant human phenylalanine hydroxylase in NIH3T3 cells or E. coli.
p-Chlorphenylalanine effect on phenylalanine hydroxylase in hepatoma cells in culture.
Phenylalanine hydroxylase activity in isolated, perfused liver of rats bearing rhodamine sarcoma, hepatoma, and nodular hyperplasia.
Properties of phenylalanine hydroxylase of cultured hepatoma cells.
Retroviral-mediated gene transfer of human phenylalanine hydroxylase into NIH 3T3 and hepatoma cells.
Reversible inactivation of phenylalanine hydroxylase by catecholamines in cultured hepatoma cells.
RNA from rat hepatoma cells can activate phenylalanine hydroxylase gene of mouse erythroleukemia cells.
The activity of phenylalanine hydroxylase of hepatoma and liver of normal and tumorous animals.
The unique identity of rat hepatoma phenylalanine hydroxylase.
Translation of phenylalanine hydroxylase-specific mRNA in vitro: evidence for pretranslational control by glucocorticoids.
[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.
PhenCode: connecting ENCODE data with mutations and phenotype.
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.
A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria.
An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.
Anabolic function of phenylalanine hydroxylase in Caenorhabditis elegans.
Aptamer-based assay for monitoring genetic disorder phenylketonuria (PKU).
Dietary glycomacropeptide supports growth and reduces the concentrations of phenylalanine in plasma and brain in a murine model of phenylketonuria.
Erythrocyte-mediated delivery of phenylalanine ammonia lyase for the treatment of phenylketonuria in BTBR-Pah(enu2) mice.
Expression analysis of phenylketonuria mutations. Effect on folding and stability of the phenylalanine hydroxylase protein.
Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase.
Genetically engineered probiotic for the treatment of phenylketonuria (PKU); assessment of a novel treatment in vitro and in the PAHenu2 mouse model of PKU.
Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish.
GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria.
HPLC for confirmatory diagnosis and biochemical monitoring of cuban patients with hyperphenylalaninemias.
Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency.
In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.
Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany.
Modulation of Human Phenylalanine Hydroxylase by 3-Hydroxyquinolin-2(1H)-One Derivatives.
Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene.
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.
Natural phenylalanine hydroxylase variants that confer a mild phenotype affect the enzyme's conformational stability and oligomerization equilibrium.
Oligodendrocyte development and myelinogenesis are not impaired by high concentrations of phenylalanine or its metabolites.
Pegvaliase: First Global Approval.
Phenylalanine ammonia lyase, enzyme substitution therapy for phenylketonuria, where are we now?
Phenylalanine ammonia-lyase modified with polyethylene glycol: Potential therapeutic agent for phenylketonuria.
PKU is a reversible neurodegenerative process within the nigrostriatum that begins as early as 4 weeks of age in Pah(enu2) mice.
Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.
Rapid carrier screening using short tandem repeats in the phenylalanine hydroxylase gene.
Rapid detection of PAH gene mutations in Chinese people.
Recovery of neurogenic amines in phenylketonuria mice after liver-targeted gene therapy.
Sapropterin dihydrochloride (Kuvan/Phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria.
Simulations of the regulatory ACT domain of human phenylalanine hydroxylase unveil its mechanism of phenylalanine binding.
Stress and quality of life in parents of children with phenylketonuria.
Structure of full-length human phenylalanine hydroxylase in complex with tetrahydrobiopterin.
Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations.
[Financial justification of investments into special diet for patients with phenylketonuria].
[Lipids composition diet in phenylketonuric children with early diagnosis]
[Phenylketonuria as a model system for DNA diagnosis of hereditary disorders]
[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.
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.
Correction in Female PKU Mice by Repeated Administration of mPAH cDNA Using phiBT1 Integration System.
Gene therapy for phenylketonuria: phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene transfer.
Hepatic gene therapy: adenovirus enhancement of receptor-mediated gene delivery and expression in primary hepatocytes.
Hippocampal synaptic connectivity in phenylketonuria.
Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies.
Monogenic traits are not simple: lessons from phenylketonuria.
Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses.
Phenylalanine hydroxylase deficiency.
Phenylketonuria is still a major cause of mental retardation in Tunisia despite the possibility of treatment.
Phenylketonuria: Direct and indirect effects of phenylalanine.
Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA.
Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997.
Strategies Used in Production of Phenylalanine-Free Foods for PKU Management.
Structure of full-length human phenylalanine hydroxylase in complex with tetrahydrobiopterin.
Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria.
Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria.
The fas/fas ligand death receptor pathway contributes to phenylalanine-induced apoptosis in cortical neurons.
[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.
Amplification and expression of phenylalanine hydroxylase in mouse erythroleukemia cells.
DNA-mediated restoration of phenylalanine hydroxylase gene expression in enzyme-deficient derivatives of enzyme-constitutive mouse cell hybrids.
Epigenetic activation of phenylalanine hydroxylase in mouse erythroleukemia cells by the cytoplast of rat hepatoma cells.
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.
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.
A single origin of phenylketonuria in Yemenite Jews.
Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuria.
Hepatocyte transplantation using the domino concept in a child with Tetrabiopterin non-responsive phenylketonuria.
In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients.
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population.
New PAH gene promoter KLF1 and 3'-region C/EBPalpha motifs influence transcription in vitro.
Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians' current practices.
Propagation of Plasma L-Phenylalanine Concentration Fluctuations to the Neurovascular Unit in Phenylketonuria: An in silico Study.
Strategies Used in Production of Phenylalanine-Free Foods for PKU Management.
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.
Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation.
White matter disturbances in phenylketonuria: Possible underlying mechanisms.
[Diagnosis and monitoring of phenylketonuria by LC-MS-MS in Morocco].
[Neurological, neuropsychological, and ophtalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients].
[Phenylketonuria]
[Why do mutations cause disease--a protein chemical perspective]
Metabolism, Inborn Errors
A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency.
Coenzyme Q10 in phenylketonuria and mevalonic aciduria.
Delayed phenylketonuria diagnosis: a challenging case in child psychiatry.
Early-onset behavioral and neurochemical deficits in the genetic mouse model of phenylketonuria.
Maternal genetic disorders and fetal development.
Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU).
Reversal of Metabolic and Neurological Symptoms of Phenylketonuric Mice Treated with a PAH Containing Helper-Dependent Adenoviral Vector.
Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
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.
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.
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.
A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency.
A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.
A Survey of Eating Attitudes and Behaviors in Adolescents and Adults With Phenylalanine Hydroxylase Deficiency.
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency.
An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria.
Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia.
Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population.
Biochemical study of malnutrition. Part V. Metabolism of phenylalanine and tyrosine.
Biopterin responsive phenylalanine hydroxylase deficiency.
Biopterins in arginase, dihydropteridine reductase and phenylalanine hydroxylase deficiency.
Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis.
Characterization of the mouse phenylalanine hydroxylase mutation Pah(enu3).
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.
Co-existence of phenylketonuria and Fabry disease on a 3 year-old boy: case report.
Corrigendum: Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
Delayed phenylketonuria diagnosis: a challenging case in child psychiatry.
Diagnosis of phenylalanine hydroxylase deficiency (phenylketonuria).
Different phenotypes for phenylalanine hydroxylase deficiency.
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
Dopamine precursors and brain function in phenylalanine hydroxylase deficiency.
Early-onset behavioral and neurochemical deficits in the genetic mouse model of phenylketonuria.
Epilepsy and phenylketonuria: a case description and EEG-fMRI findings.
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.
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Feedback regulation mechanisms for the control of GTP cyclohydrolase I activity.
Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.
Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil.
Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish.
Hepatocyte transplantation using the domino concept in a child with Tetrabiopterin non-responsive phenylketonuria.
Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles.
Heterozygote detection in phenylketonuria.
High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002.
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.
HPLC for confirmatory diagnosis and biochemical monitoring of cuban patients with hyperphenylalaninemias.
Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.
Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency.
In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder.
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios.
Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria.
Malignant hyperphenylalaninemia--clinical features, biochemical findings, and experience with administration of biopterins.
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion Summary, Number 802.
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion, Number 802.
Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency.
Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders.
Molecular characterization of phenylalanine hydroxylase deficiency in Chile. Mutations in brief no. 243. Online.
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants.
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias.
Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.
Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.
Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.
Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation.
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).
Neurocognitive, neuropsychiatric, and neurological outcomes associated with phenylalanine hydroxylase deficiency: Assessment considerations for nurse practitioners.
New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria.
Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency.
Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo.
Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency.
Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant.
Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene.
Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements.
Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.
Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.
Phenylalanine hydroxylase deficiency in the peripheral lymphocytes from phenylketonuria.
Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.
Phenylalanine hydroxylase deficiency.
Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
Phenylalanine hydroxylase deficiency: intelligence of patients after early dietary treatment.
Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH(4)-responsiveness in South Portugal PKU patients.
Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency.
Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU.
Phenylketonuria and glycogen storage disease type III in sibs of one family.
Phenylketonuria due to phenylalanine hydroxylase deficiency: an unfolding story. Medical Research Council Working Party on Phenylketonuria.
Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China.
Physical development in patients with phenylketonuria on dietary treatment: a retrospective study.
Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration.
Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.
Protein intake and physical activity are associated with body composition in individuals with phenylalanine hydroxylase deficiency.
Pteridines and mono-amines: relevance to neurological damage.
Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997.
Recommendations for the nutrition management of phenylalanine hydroxylase deficiency.
Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study.
Retrospective Study of Patients with Hyperphenylalaninemia- Experience from a Tertiary Care Center in Pakistan.
Sapropterin dihydrochloride for phenylketonuria.
Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe.
Spectrum and origin of phenylketonuria mutations in Spain.
Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency.
Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province.
Testing for Tetrahydrobiopterin Responsiveness in Patients with Hyperphenylalaninemia due to Phenylalanine Hydroxylase Deficiency.
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.
Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency.
Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency.
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art.
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: possible regulation of gene expression in a patient with the homozygous L48S mutation.
Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency.
The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients.
The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
The molecular basis of phenylalanine hydroxylase deficiency in Croatia.
The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency.
The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study.
The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.
The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency.
The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency.
Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling.
Treatment of phenylalanine hydroxylase deficiency.
Two mutations within the coding sequence of the phenylalanine hydroxylase gene.
Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.
Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach.
Urinary metabolic profile of phenylketonuria in patients receiving total parenteral nutrition and medication.
Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.
Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.
Variations in genotype-phenotype correlations in phenylketonuria patients.
Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
[A case report of mild from of phenylketonuria]
[Characteristics of gene variants among patients with hyperphenylalaninemia from Quanzhou region of Fujian province].
[Classification and heterogeneity of hyperphenylalaninemias linked to a phenylalanine hydroxylase deficiency]
[Clinical study of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency in southern and northern Chinese patients]
[Diagnosis, treatment and long-term following up of 223 patients with hyperphenylalaninemia detected by neonatal screening programs]
[Diagnostics and treatment of phenylketonuria.]
[Genetic analysis of 36 children affected with phenylalanine hydroxylase deficiency from Fujian].
[Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan].
[MAOB: a modifier gene in phenylketonuria?]
[Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test]
[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.
Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome.
Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)
Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation.
Maternal phenylketonuria.
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.
'Celtic' phenylketonuria chromosomes found? Evidence in two regions of Quebec Province.
5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics.
A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family.
A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria.
A bone mineralization defect in the Pahenu2 model of classical phenylketonuria involves compromised mesenchymal stem cell differentiation.
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
A comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients.
A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene.
A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs.
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
A fluorescent multiplex ARMS method for rapid mutation analysis.
A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1.
A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency.
A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.
A microparticulate based formulation to protect therapeutic enzymes from proteolytic digestion: phenylalanine ammonia lyase as case study.
A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.
A molecular survey of phenylketonuria in Iceland: identification of a founding mutation and evidence of predominant Norse settlement.
A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.
A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.
A new model for allosteric regulation of phenylalanine hydroxylase: Implications for disease and therapeutics.
A New View of Bone Loss in Phenylketonuria.
A novel 22bp deletion in a Tunisian phenylketonuria family.
A novel approach for enzyme replacement therapy. The use of phenylalanine hydroxylase-based fusion proteins for the treatment of phenylketonuria.
A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria.
A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency.
A Novel Variant in the PAH Gene Causing Phenylketonuria in an Iranian Pedigree.
A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics.
A preliminary mutation analysis of phenylketonuria in southwest Iran.
A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia.
A prospective population pharmacokinetic analysis of sapropterin dihydrochloride in infants and young children with phenylketonuria.
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria.
A role for overdominant selection in phenylketonuria? Evidence from molecular data.
A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria.
A simple and rapid polymerase chain reaction-based method for detecting a prevalent mutation (R413P) in Japanese phenylketonuria patients.
A simple, rapid, and highly informative PCR-based procedure for prenatal diagnosis and carrier screening of phenylketonuria.
A single origin of phenylketonuria in Yemenite Jews.
A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria.
A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria.
A Survey of Eating Attitudes and Behaviors in Adolescents and Adults With Phenylalanine Hydroxylase Deficiency.
A termination mutant prevalent in Norwegian haplotype 7 phenylketonuria genes.
A unique RFLP haplotype at the phenylalanine hydroxylase locus in Czechoslovak Gypsies with phenylketonuria.
AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria.
Aberrant phenylalanine metabolism in phenylketonuria heterozygotes.
Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe.
Absent phenylalanine hydroxylase activity without phenylketonuria.
ACOG Committee Opinion no. 449: Maternal phenylketonuria.
Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor.
Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria.
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.
Adult-onset phenylketonuria with rapidly progressive dementia and parkinsonism.
Age-related psychophysiological vulnerability to phenylalanine in phenylketonuria.
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.
Altered brain gene expression profiles associated with the pathogenesis of phenylketonuria in a mouse model.
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency.
An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.
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.
An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria.
An Overview of Traditional and Novel Therapeutic Options for the Management of Phenylketonuria.
Anabolic function of phenylalanine hydroxylase in Caenorhabditis elegans.
Analysis of EX5del4232ins268 and EX5del955 PAH gene mutations in Ukrainian patients with phenylketonuria.
Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells.
Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China.
Analysis of the molecular variance at the phenylalanine hydroxylase (PAH) locus.
Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers.
Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia.
Aptamer-based assay for monitoring genetic disorder phenylketonuria (PKU).
Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population.
Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria.
Assessment of the Phenylketonuria (PKU)-Associated Mutation p.R155H Biochemical Manifestations by Mass Spectrometry-Based Blood Metabolite Profiling.
Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro.
Atypical PKU with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro.
Behavioral and Emotional Problems in Early-Treated Brazilian Children and Adolescents with Phenylketonuria.
BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor.
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Biochemical analysis of Centaurea depressa phenylalanine ammonia lyase (PAL) for biotechnological applications in phenylketonuria (PKU).
Biochemical and developmental features of experimental phenylketonuria induced by L-ethionine in suckling rats.
Biochemical study of malnutrition. Part V. Metabolism of phenylalanine and tyrosine.
Biophysical characterization of full-length human phenylalanine hydroxylase provides a deeper understanding of its quaternary structure equilibrium.
Biopterin responsive phenylalanine hydroxylase deficiency.
Biopterins in arginase, dihydropteridine reductase and phenylalanine hydroxylase deficiency.
Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis.
Brain bioenergetics in rats with acute hyperphenylalaninemia.
Carcinogenic effects in a phenylketonuria mouse model.
Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.
Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypes.
Characterization of phenylalanine hydroxylase gene mutations in phenylketonuria in Xinjiang of China.
Characterization of phenylketonuria alleles in the Italian population.
Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype.
Characterization of the mouse phenylalanine hydroxylase mutation Pah(enu3).
Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias.
Clinical application of genotypic diagnosis for phenylketonuria: theoretical considerations.
Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data.
Clinical characterization of tremor in patients with phenylketonuria.
Clinical therapeutics for phenylketonuria.
Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria.
Co-existence of phenylketonuria and Fabry disease on a 3 year-old boy: case report.
Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation.
Coenzyme Q10 in phenylketonuria and mevalonic aciduria.
Cognitive deficits in a genetic mouse model of the most common biochemical cause of human mental retardation.
Committee opinion no: 636: Management of women with phenylketonuria.
Comparative analysis of phenylalanine hydroxylase A104D mutant, associated with variant phenylketonuria, and wild-type enzyme.
Comparative diagnostic value of phenylalanine challenge and phenylalanine hydroxylase activity in phenylketonuria.
Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria.
Comparison of epidermal keratinocytes and dermal fibroblasts as potential target cells for somatic gene therapy of phenylketonuria.
Comparison of genotype and intellectual phenotype in untreated PKU patients.
Complete and persistent phenotypic correction of phenylketonuria in mice by site-specific genome integration of murine phenylalanine hydroxylase cDNA.
Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria.
Complete restoration of phenylalanine oxidation in phenylketonuria mouse by a self-complementary adeno-associated virus vector.
Complete spectrum of PAH mutations in Tataria: presence of Slavic, Turkic and Scandinavian mutations.
Conformational selection turns on phenylalanine hydroxylase.
Connecting mutant phenylalanine hydroxylase with phenylketonuria.
Controlled diet in phenylketonuria and hyperphenylalaninemia may cause serum selenium deficiency in adult patients: the Czech experience.
Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples.
Correction in Female PKU Mice by Repeated Administration of mPAH cDNA Using phiBT1 Integration System.
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.
Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system.
Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.
Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria.
Corrigendum: Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model.
CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria.
Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria.
Crystal structure of tyrosine hydroxylase at 2.3 A and its implications for inherited neurodegenerative diseases.
Delayed phenylketonuria diagnosis: a challenging case in child psychiatry.
Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria.
Detection of Heterozygous Carriers of PKU in Egypt: Successful Application of a Simple Biochemical Method.
Detection of phenylalanine hydroxylase messenger RNA in liver biopsy samples from patients with phenylketonuria.
Detection of point mutations of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria.
Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia.
Development of a model for assessment of phenylalanine hydroxylase activity in newborns with phenylketonuria receiving tetrahydrobiopterin: a potential for practical implementation.
Development of a porcine model of phenylketonuria with a humanized R408W mutation for gene editing.
Development of a skin-based metabolic sink for phenylalanine by overexpression of phenylalanine hydroxylase and GTP cyclohydrolase in primary human keratinocytes.
Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria.
Diagnosis of phenylalanine hydroxylase deficiency (phenylketonuria).
Dietary glycomacropeptide supports growth and reduces the concentrations of phenylalanine in plasma and brain in a murine model of phenylketonuria.
Dietary intake and nutritional status of patients with phenylketonuria in Taiwan.
Different phenotypes for phenylalanine hydroxylase deficiency.
Differential effects of low-phenylalanine protein sources on brain neurotransmitters and behavior in C57Bl/6-Pah(enu2) mice.
Diffusion-weighted imaging of white matter abnormalities in patients with phenylketonuria.
Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany.
Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation.
Discussion: Phenylalanine hydroxylase in human kidney; relevance to Phenylketonuria.
Disruption of PTPS Gene Causing Pale Body Color and Lethal Phenotype in the Silkworm, Bombyx mori.
Distribution of some point mutations in the phenylalanine hydroxylase gene of phenylketonuria patients from the Moscow region.
Distributions of phenylalanine hydroxylase mutations and haplotypes in Lithuanian phenylketonuria patients.
Diverse PAH transcripts in lymphocytes of PKU patients with putative nonsense (G272X, Y356X) and missense (P281L, R408Q) mutations.
DNA damage induced by phenylalanine and its analogue p-chlorophenylalanine in blood and brain of rats subjected to a model of hyperphenylalaninemia.
DNA haplotype analyses of patients with hyperphenylalaninemia.
DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population.
DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH(enu2) mouse model of phenylketonuria.
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
Dopamine precursors and brain function in phenylalanine hydroxylase deficiency.
E3 Ubiquitin Ligase APC/CCdh1 Regulation of Phenylalanine Hydroxylase Stability and Function.
Early Stage Discovery and Validation of Pharmacological Chaperones for the Correction of Protein Misfolding Diseases.
Early-onset behavioral and neurochemical deficits in the genetic mouse model of phenylketonuria.
Effect of Delayed Diagnosis of Phenylketonuria With Imaging Findings of Bilateral Diffuse Symmetric White Matter Lesions: A Case Report and Literature Review.
Effects of p-chlorophenylalanine and alpha-methylphenylalanine on amino acid uptake and protein synthesis in mouse neuroblastoma cells.
Enhanced genome editing to ameliorate a genetic metabolic liver disease through co-delivery of adeno-associated virus receptor.
Epilepsy and phenylketonuria: a case description and EEG-fMRI findings.
Erythrocyte-mediated delivery of phenylalanine ammonia lyase for the treatment of phenylketonuria in BTBR-Pah(enu2) mice.
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.
Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study.
Evidence for central nervous system glial cell plasticity in phenylketonuria.
Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations.
Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Experimentally induced phenylketonuria. 3. Inhibitors of phenylalanine hydroxylase related to esculetin.
Experimentally induced phenylketonuria. 4. Potential inhibitors of phenylalanine hydroxylase.
Experimentally induced phenylketonuria. I. Inhibitors of phenylalanine hydroxylase.
Experimentally induced phenylketonuria. II. Potential inhibitors of phenylalanine hydroxylase.
Expression analysis of phenylketonuria mutations. Effect on folding and stability of the phenylalanine hydroxylase protein.
Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transfer.
Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pah(enu2) mice.
Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.
Feedback regulation mechanisms for the control of GTP cyclohydrolase I activity.
First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population.
First structure of full-length mammalian phenylalanine hydroxylase reveals the architecture of an autoinhibited tetramer.
Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.
Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuria.
Founder effect of a prevalent phenylketonuria mutation in the Oriental population.
Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil.
Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase.
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.
Gene probes: application to prenatal and postnatal diagnosis of genetic disease.
Gene therapy for phenylketonuria.
Gene therapy for phenylketonuria: phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene transfer.
Gene transfer and expression of human phenylalanine hydroxylase.
Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.
Genetic background of clinical homogeneity of phenylketonuria in Poland.
Genetic background of hyperphenylalaninemia in Nagasaki, Japan.
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.
Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.
Genetic variants of the phenylalanine hydroxylase gene in patients with phenylketonuria in the northeast of Iran.
Genetically engineered probiotic for the treatment of phenylketonuria (PKU); assessment of a novel treatment in vitro and in the PAHenu2 mouse model of PKU.
Genetics of phenylketonuria. Third allele at the phenylalanine hydroxylase locus in man.
Genetics of Phenylketonuria: Then and Now.
Genetics of the mammalian phenylalanine hydroxylase system. Studies of human liver phenylalanine hydroxylase subunit structure and of mutations in phenylketonuria.
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.
Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil.
Genotype-predicted tetrahydrobiopterin (BH(4))-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.
Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia.
Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish.
Glutathione metabolism enzymes in brain and liver of hyperphenylalaninemic rats and the effect of lipoic acid treatment.
GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria.
Guide for diagnosis and treatment of hyperphenylalaninemia.
Gypsy phenylketonuria: a point mutation of the phenylalanine hydroxylase gene in Gypsy families from Slovakia.
Haplotype analysis of phenylalanine hydroxylase alleles in polish families with phenylketonuria.
Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families.
Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.
Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations.
Hepatic gene therapy: adenovirus enhancement of receptor-mediated gene delivery and expression in primary hepatocytes.
Hepatic phenylalanine hydroxylase activity in hyperphenylalaninaemia.
Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome.
Hepatocyte transplantation using the domino concept in a child with Tetrabiopterin non-responsive phenylketonuria.
Hepatocytes from wild-type or heterozygous donors are equally effective in achieving successful therapeutic liver repopulation in murine phenylketonuria (PKU).
Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles.
Heterogeneity of phenylketonuria at the clinical, protein and DNA levels.
Heterozygote detection in phenylketonuria.
High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002.
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.
Hippocampal synaptic connectivity in phenylketonuria.
Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia.
HPLC for confirmatory diagnosis and biochemical monitoring of cuban patients with hyperphenylalaninemias.
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
Hyperphenylalaninemia and birth weight.
Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.
Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement.
Identification of a new missense mutation in Japanese phenylketonuric patients.
Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report.
Identification of a novel phenylketonuria (PKU) mutation in the Chinese: further evidence for multiple origins of PKU in Asia.
IDENTIFICATION OF MUTATIONS IN THE PAH GENE IN PKU PATIENTS IN THE STATE OF MATO GROSSO.
Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria.
Identification of three novel missense PKU mutations among Chinese.
Identification of three novel PKU mutations among Chinese: evidence for recombination or recurrent mutation at the PAH locus.
Identifying and elucidating the roles of Y198N and Y204F mutations in the PAH enzyme through molecular dynamic simulations.
Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria.
Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.
Immunological detection of phenylalanine hydroxylase in phenylketonuria.
Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency.
Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome.
Impaired phenylalanine-tyrosine conversion in patients with iron-deficiency anemia studied by a L-(2H5)phenylalanine-loading test.
Improvement, cloning, and expression of an in silico designed protein enriched with large neutral amino acids in Pichia pastoris for possible application in phenylketonuria.
In silico analyses of the effects of a point mutation and a pharmacological chaperone on the thermal fluctuation of phenylalanine hydroxylase.
In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.
In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.
In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria.
In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients.
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.
In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations.
In vivo disposal of phenylalanine in phenylketonuria: a study of two siblings.
In vivo inhibition of rat liver phenylalanine hydroxylase by p-chlorophenylalanine and Esculin. Experimental model of phenylketonuria.
In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria.
Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria.
Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study.
Insights from Animal Models on the Pathophysiology of Hyperphenylalaninemia: Role of Mitochondrial Dysfunction, Oxidative Stress and Inflammation.
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees.
Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria.
Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.
Investigation of Five Common Mutations on Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from Two Provinces in North of Iran.
Investigation of oxidative stress parameters in treated phenylketonuric patients.
L-phenylalanine binding and domain organization in human phenylalanine hydroxylase: a differential scanning calorimetry study.
Large deletions in the phenylalanine hydroxylase gene as a cause of phenylketonuria in India.
Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis.
Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder.
Late-diagnosed phenylketonuria mimicking x-linked adrenoleukodystrophy with heterozygous mutations of the PAH Gene: A case report and literature review.
Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population.
Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal.
Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios.
Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria.
Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylketonuria mice.
Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at
Long-term enzymatic and phenotypic correction in the phenylketonuria mouse model by adeno-associated virus vector-mediated gene transfer.
Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria.
Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment.
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience.
Long-Term Metabolic Correction of Phenylketonuria by AAV-Delivered Phenylalanine Amino Lyase.
Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study.
Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acids.
Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany.
Low-Dose Gene Therapy for Murine PKU Using Episomal Naked DNA Vectors Expressing PAH from Its Endogenous Liver Promoter.
Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation.
Malignant hyperphenylalaninemia--clinical features, biochemical findings, and experience with administration of biopterins.
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion Summary, Number 802.
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion, Number 802.
Manipulation of a cation-? sandwich reveals conformational flexibility in phenylalanine hydroxylase.
Manipulation of the phenylalanine metabolism in human keratinocytes by retroviral mediated gene transfer.
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.
Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation.
Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.
Melanoma cases demonstrate increased carrier frequency of phenylketonuria/hyperphenylalanemia mutations.
Mesenchymal stem cell energy deficit and oxidative stress contribute to osteopenia in the Pahenu2 classical PKU mouse.
Metabolic and catecholamine response to sympathetic stimulation in early-treated adult male patients with phenylketonuria.
Metabolic basis of sexual dimorphism in PKU mice after genome-targeted PAH gene therapy.
Metabolomics analysis reveals perturbations of cerebrocortical metabolic pathways in the Pahenu2 mouse model of phenylketonuria.
Methylome repatterning in a mouse model of Maternal PKU Syndrome.
Minimally invasive (13)C-breath test to examine phenylalanine metabolism in children with phenylketonuria.
Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria.
Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications.
Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency.
Modulation of Human Phenylalanine Hydroxylase by 3-Hydroxyquinolin-2(1H)-One Derivatives.
Modulation of the activity of newly synthesized human phenylalanine hydroxylase mutant proteins by low-molecular-weight compounds.
Molecular analysis of exons 6 and 7 of phenylalanine hydroxylase gene mutations in Phenylketonuria patients in Western Iran.
Molecular analysis of PKU haplotypes in the population of southern Poland.
Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders.
Molecular basis of mild hyperphenylalaninaemia in Poland.
Molecular basis of phenotypic heterogeneity in phenylketonuria.
Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.
Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
Molecular characterization of phenylalanine hydroxylase deficiency in Chile. Mutations in brief no. 243. Online.
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
Molecular characterization of phenylketonuria in Japanese patients.
Molecular characterization of phenylketonuria in South Brazil.
Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants.
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
Molecular Genetic Analysis of the Variable Number of Tandem-Repeat Alleles at the Phenylalanine Hydroxylase Gene in Iranian Azeri Turkish Population.
Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S.
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.
Molecular genetics of phenylketonuria in Orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene.
Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene.
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus.
Monogenic traits are not simple: lessons from phenylketonuria.
Mouse models of human phenylketonuria.
Mouse phenylalanine hydroxylase. Homology and divergence from human phenylalanine hydroxylase.
Multiple origins for phenylketonuria in Europe.
Mutation analysis anticipates dietary requirements in phenylketonuria.
Mutation Analysis in Classical Phenylketonuria Patients Followed by Detecting Haplotypes Linked to Some PAH Mutations.
Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias.
Mutation analysis in hyperphenylalaninemia patients from South Italy.
Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria.
Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations.
Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria.
Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China.
Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran.
Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.
Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples.
Mutation screening of phenylketonuria in the Far East of Russia.
Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.
Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.
Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.
Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation.
Mutational spectrum of phenylketonuria in Jiangsu province.
Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China.
Mutations identified in exon 7 of phenylalanine hydroxylase gene in Chinese.
Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia.
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.
Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.
Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria.
Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria.
Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China.
Myelin turnover in hyperphenylalaninaemia. A re-evaluation with the HPH-5 mouse.
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).
Near-ultraviolet photolysis of beta-phenylpyruvic acid generates free radicals and results in DNA damage.
Neopterin and biopterin levels in patients with atypical forms of phenylketonuria.
Neurocognitive, neuropsychiatric, and neurological outcomes associated with phenylalanine hydroxylase deficiency: Assessment considerations for nurse practitioners.
Neurological aspects of adult phenylketonuria.
Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough?
New approaches to the treatment of phenylketonuria.
New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
New PAH gene promoter KLF1 and 3'-region C/EBPalpha motifs influence transcription in vitro.
New protein structures provide an updated understanding of phenylketonuria.
Newborn mass screening and molecular genetics of phenylketonuria in east Asia.
Non-invasive prenatal testing of pregnancies at risk for phenylketonuria.
Novel association approach for determining the genetic predisposition to schizophrenia: case-control resource and testing of a candidate gene.
Novel frame shift deletions of the phenylalanine hydroxylase gene in phenylketonuria.
Novel homozygous mutation of phenylalanine hydroxylase gene in a Chinese patient with phenylketonuria.
Novel mutation in exon 7 of phenylalanine hydroxylase gene in a Chinese patient with phenylketonuria.
Novel phenylketonuria mutation detected by analysis of ectopically transcribed phenylalanine hydroxylase mRNA from lymphoblast.
Nutrition, physical growth, and bone density in treated phenylketonuria.
Nutritional Management of Phenylketonuria.
Of mice and men: Plasma phenylalanine reduction in PKU corrects neurotransmitter pathways in the brain.
Oligodendrocyte development and myelinogenesis are not impaired by high concentrations of phenylalanine or its metabolites.
Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria.
Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency.
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.
Oxidative stress in phenylketonuria: what is the evidence?
P-chlorophenylalanine does not inhibit production of recombinant human phenylalanine hydroxylase in NIH3T3 cells or E. coli.
PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population.
PAHdb: a locus-specific knowledgebase.
Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo.
Parkinsonism in Phenylketonuria: A Consequence of Dopamine Depletion?
Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria.
Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses.
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).
Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up.
Pegvaliase: First Global Approval.
Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria.
Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency.
Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria.
Phenylalanine activates the mitochondria-mediated apoptosis through the RhoA/Rho-associated kinase pathway in cortical neurons.
Phenylalanine ammonia lyase, enzyme substitution therapy for phenylketonuria, where are we now?
Phenylalanine ammonia-lyase modified with polyethylene glycol: Potential therapeutic agent for phenylketonuria.
Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: influence of different phenylalanine hydroxylase mutations.
Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant.
Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene.
Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements.
Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.
Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.
Phenylalanine hydroxylase deficiency in the peripheral lymphocytes from phenylketonuria.
Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.
Phenylalanine hydroxylase deficiency.
Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
Phenylalanine hydroxylase deficiency: intelligence of patients after early dietary treatment.
Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH(4)-responsiveness in South Portugal PKU patients.
Phenylalanine hydroxylase deficient phenylketonuria comparative metabolomics identifies energy pathway disruption and oxidative stress.
Phenylalanine hydroxylase expression in liver of a fetus with phenylketonuria.
Phenylalanine hydroxylase from human kidney.
Phenylalanine hydroxylase gene haplotypes in Polynesians: evolutionary origins and absence of alleles associated with severe phenylketonuria.
Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes.
Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: identification of novel mutations that affect PAH RNA.
Phenylalanine hydroxylase gene: a novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria.
Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.
Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles.
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria.
Phenylalanine hydroxylase in human placenta: novel system for study of phenylketonuria.
Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency.
Phenylalanine reduces synaptic density in mixed cortical cultures from mice.
Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU.
Phenylketonuria and glycogen storage disease type III in sibs of one family.
Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.
Phenylketonuria and its variants.
Phenylketonuria and the phenylalanine hydroxylase gene.
Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation.
Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.
Phenylketonuria due to phenylalanine hydroxylase deficiency: an unfolding story. Medical Research Council Working Party on Phenylketonuria.
Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway.
Phenylketonuria in China: identification and characterization of three novel nucleotide substitutions in the human phenylalanine hydroxylase gene.
Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China.
Phenylketonuria in Iranian population: a study in institutions for mentally retarded in Isfahan.
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.
Phenylketonuria in Spain: RFLP haplotypes and linked mutations.
Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.
Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance.
Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.
Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene.
Phenylketonuria is still a major cause of mental retardation in Tunisia despite the possibility of treatment.
Phenylketonuria missense mutations in the Mediterranean.
Phenylketonuria mutant alleles in different populations: missense mutation in exon 7 of phenylalanine hydroxylase gene.
Phenylketonuria mutations in Northern China.
Phenylketonuria Pathophysiology: on the Role of Metabolic Alterations.
Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia.
Phenylketonuria screening in Iranian newborns: a systematic review and meta-analysis.
Phenylketonuria.
Phenylketonuria. The in vivo hydroxylation rate of phenylalanine into tyrosine is decreased.
Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies.
Phenylketonuria: a review of current and future treatments.
Phenylketonuria: an inborn error of phenylalanine metabolism.
Phenylketonuria: detection of a frequent haplotype 4 allele mutation.
Phenylketonuria: Direct and indirect effects of phenylalanine.
Phenylketonuria: distribution of DNA diagnostic patterns in German families.
Phenylketonuria: protein content and amino acids profile of dishes for phenylketonuric patients. The relevance of phenylalanine.
Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.
Physical development in patients with phenylketonuria on dietary treatment: a retrospective study.
PKU dietary handbook to accompany PKU guidelines.
PKU in Slovakia: mutation screening and haplotype analysis.
PKU is a reversible neurodegenerative process within the nigrostriatum that begins as early as 4 weeks of age in Pah(enu2) mice.
PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme.
Plasma Phospholipidomic Profile Differs between Children with Phenylketonuria and Healthy Children.
Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration.
Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria.
Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU).
Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU).
Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families.
Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria.
Polyol additives modulate the in vitro stability and activity of recombinant human phenylalanine hydroxylase.
Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA.
Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.
Population genetics of phenylketonuria.
Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria.
Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.
Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations.
Preliminary mutation analysis in the phenylalanine hydroxylase gene in Greek PKU and HPA patients.
Prenatal detection of an Arg----Ter mutation at codon 111 of the PAH gene using DNA amplification.
Prenatal diagnosis of Chinese families with phenylketonuria.
Prenatal diagnosis of classic phenylketonuria by DNA analysis.
Prenatal diagnosis of classical phenylketonuria by linked restriction fragment length polymorphism analysis.
Prenatal diagnosis of phenylketonuria.
Preservation of high phenylalanine ammonia lyase activities in roots of Japanese Striped corn: A potential oral therapeutic to treat phenylketonuria.
Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria.
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
Production of human recombinant phenylalanine hydroxylase in Lactobacillus plantarum for gastrointestinal delivery.
Propagation of Plasma L-Phenylalanine Concentration Fluctuations to the Neurovascular Unit in Phenylketonuria: An in silico Study.
Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU).
Protective effect of recombinant adeno-associated virus 2/8-mediated gene therapy from the maternal hyperphenylalaninemia in offsprings of a mouse model of phenylketonuria.
Protein intake and physical activity are associated with body composition in individuals with phenylalanine hydroxylase deficiency.
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.
Protein substitute for children and adults with phenylketonuria.
Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments.
Pteridines and mono-amines: relevance to neurological damage.
Purification of inactive phenylalanine hydroxylase protein from liver in classical phenylketonuria.
Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.
Queuosine deficiency in eukaryotes compromises tyrosine production through increased tetrahydrobiopterin oxidation.
Radiation accidents in the Southern Urals (1949-1967) and human genome damage.
Rapid carrier screening using short tandem repeats in the phenylalanine hydroxylase gene.
Rapid classification of phenylketonuria genotypes by analysis of heteroduplexes generated by PCR-amplifiable synthetic DNA.
Rapid detection of PAH gene mutations in Chinese people.
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.
Rapid single-base mismatch detection in genotyping for phenylketonuria.
Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997.
Recommendations for personalized dietary adjustments based on patient response to tetrahydrobiopterin (BH4) in phenylketonuria.
Recommendations for the nutrition management of phenylalanine hydroxylase deficiency.
Reconstitution of enzymatic activity in hepatocytes of phenylalanine hydroxylase-deficient mice.
Recovery of neurogenic amines in phenylketonuria mice after liver-targeted gene therapy.
Recurrent mutation in the human phenylalanine hydroxylase gene.
Reduced 6,6,8-trimethylpterins. Preparation, properties and enzymic reactivities with dihydropteridine reductase, phenylalanine hydroxylase and tyrosine hydroxylase.
Reduced cerebral fluoro-L-dopamine uptake in adult patients suffering from phenylketonuria.
Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome.
Regular exercise prevents oxidative stress in the brain of hyperphenylalaninemic rats.
Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients.
Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study.
Relationship between genotype and phenotype in monogenic diseases: relevance to polygenic diseases.
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.
Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population.
Relationship between myelin production and dopamine synthesis in the PKU mouse brain.
Reliable analysis of phenylalanine and tyrosine in a minimal volume of blood.
Retraction for Chen et al., Complete and persistent phenotypic correction of phenylketonuria in mice by site-specific genome integration of murine phenylalanine hydroxylase cDNA.
Retrospective Study of Patients with Hyperphenylalaninemia- Experience from a Tertiary Care Center in Pakistan.
Retroviral-mediated gene transfer and expression of human phenylalanine hydroxylase in primary mouse hepatocytes.
Retroviral-mediated gene transfer of human phenylalanine hydroxylase into NIH 3T3 and hepatoma cells.
Reversal of gene expression profile in the phenylketonuria mouse model after adeno-associated virus vector-mediated gene therapy.
Reversal of hypopigmentation in phenylketonuria mice by adenovirus-mediated gene transfer.
Reversal of Metabolic and Neurological Symptoms of Phenylketonuric Mice Treated with a PAH Containing Helper-Dependent Adenoviral Vector.
RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families.
RFLPs of the phenylalanine hydroxylase gene in the Italian population.
Role of catalase and superoxide dismutase activities on oxidative stress in the brain of a phenylketonuria animal model and the effect of lipoic Acid.
Role of the liver in the pathogenesis of cerebral disorders in phenylketonuria.
Saccadic reaction time and ocular findings in phenylketonuria.
Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: Results of a phase 3b study.
Sapropterin dihydrochloride (Kuvan/Phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria.
Sapropterin dihydrochloride for phenylketonuria.
Sapropterin dihydrochloride: A new drug and a new concept in the management of phenylketonuria.
Sapropterin hydrochloride: enzyme enhancement therapy for phenylketonuria.
Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.
Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction.
Screening for six Mediterranean mutations in 90 Egyptian patients with phenylketonuria.
Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS.
Sequence comparison of rat liver phenylalanine hydroxylase and its cDNA clones.
Sequence variation at the phenylalanine hydroxylase gene in the British Isles.
Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes.
Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.
Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe.
Simulations of the regulatory ACT domain of human phenylalanine hydroxylase unveil its mechanism of phenylalanine binding.
Simultaneous measurement of phenylalanine and tyrosine in phenylketonuric plasma and dried blood by high-performance liquid chromatography.
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.
Site-specific transgene integration in the human genome catalyzed by phiBT1 phage integrase.
Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency.
Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province.
Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.
Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
Spectrum of phenylketonuria mutations in western Europe and north Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus.
Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India.
START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients.
Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations.
Stress and quality of life in parents of children with phenylketonuria.
Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene.
Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase.
Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria.
Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria.
Structure of full-length human phenylalanine hydroxylase in complex with tetrahydrobiopterin.
Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria.
Studies on the molecular defect in phenylketonuria and hyperphenylalaninaemia using antibodies against phenylalanine hydroxylase.
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.
Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo Transfer.
Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin.
Sustained Correction of a Murine Model of Phenylketonuria following a Single Intravenous Administration of AAVHSC15-PAH.
Sustaining benefits of nutritional therapy in young adults with phenylketonuria - A 2?year prospective study.
Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.
Testing for Tetrahydrobiopterin Responsiveness in Patients with Hyperphenylalaninemia due to Phenylalanine Hydroxylase Deficiency.
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.
Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation.
Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings.
Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency.
Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency.
Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.
Tetrahydrobiopterin-responsive hyperphenylalaninaemia due to homozygous mutations in the phenylalanine hydroxylase gene.
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art.
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: possible regulation of gene expression in a patient with the homozygous L48S mutation.
Tetrahydrobiopterin: biochemistry and pathophysiology.
Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency.
The complete European guidelines on phenylketonuria: diagnosis and treatment.
The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients.
The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria.
The effect of blood phenylalanine concentration on Kuvan™ response in phenylketonuria.
The effect of improved dietary control on cognitive and psychiatric functioning in adults with phenylketonuria: the ReDAPT study.
The fas/fas ligand death receptor pathway contributes to phenylalanine-induced apoptosis in cortical neurons.
The G46S-hPAH mutant protein: A model to study the rescue of aggregation-prone PKU mutations by chaperones.
The Genetic Landscape and Epidemiology of Phenylketonuria.
The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.
The implications of multiple forms of phenylalanine hydroxylase in phenylketonuria and related diseases of phenylalanine metabolism.
The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene.
The incidence of phenylketonuria in Thailand.
The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.
The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response.
The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin.
The management of phenylketonuria in adult patients in Italy: a survey of six specialist metabolic centers.
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
The Missense p.S231F phenylalanine hydroxylase gene mutation causes complete loss of enzymatic activity in vitro.
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.
The molecular basis of phenylalanine hydroxylase deficiency in Croatia.
The molecular basis of phenylketonuria in Koreans.
The molecular basis of phenylketonuria in Lithuania.
The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency.
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.
The mutations and VNTRs in the phenylalanine hydroxylase gene of phenylketonuria in St Petersburg.
The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase.
The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study.
The phenylalanine hydroxylase locus: a marker for the history of phenylketonuria and human genetic diversity. PAH Mutation Analysis Consortium.
The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.
The phenylketonuria patient: A recent dietetic therapeutic approach.
The phenylketonuria-associated substitution R68S converts phenylalanine hydroxylase to a constitutively active enzyme but reduces its stability.
The PKU locus in man is on chromosome 12.
The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme.
The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.
The regulation of phenylalanine hydroxylase in rat tissues in vivo. The maintenance of high plasma phenylalanine concentrations in suckling rats: a model for phenylketonuria.
The relationship between dietary intake, growth and body composition in Phenylketonuria.
The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency.
The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency.
The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples.
The structural basis of phenylketonuria.
The V388M mutation results in a kinetic variant form of phenylalanine hydroxylase.
Three polymorphisms but no disease-causing mutations in the proximal part of the promoter of the phenylalanine hydroxylase gene.
Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling.
Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria.
Tissue-specific activation of mitogen-activated protein kinases for expression of transthyretin by phenylalanine and its metabolite, phenylpyruvic acid.
Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations.
Toward PKU enzyme replacement therapy: PEGylation with activity retention for three forms of recombinant phenylalanine hydroxylase.
Towards the identification of the allosteric Phe-binding site in phenylalanine hydroxylase.
Transient neonatal hyperphenylalaninaemia is not related to mutations at the phenylalanine hydroxylase gene.
Transient phenylketonuria in premature infants.
Treating phenylketonuria by a phenylalanine-free diet.
Treatment of a metabolic liver disease by in vivo genome base editing in adult mice.
Treatment of phenylalanine hydroxylase deficiency.
Trends in enzyme therapy for phenylketonuria.
Tryptophan metabolism: utility of plasmatic assay in phenylketonuria, a study in 6 adult patients.
Two distinct mutations at a single BamHI site in phenylketonuria.
Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.
Two mutations within the coding sequence of the phenylalanine hydroxylase gene.
Two novel mutations in phenylalanine hydroxylase gene and in vitro expression analysis on mutation Arg252Gln.
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.
Undiagnosed maternal phenylketonuria: own clinical experience and literature review.
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.
Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.
Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings.
Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach.
Urinary metabolic profile of phenylketonuria in patients receiving total parenteral nutrition and medication.
Use of an adeno-associated virus serotype Anc80 to provide durable cure of phenylketonuria in a mouse model.
Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.
Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.
Variants of the phenylalanine hydroxylase gene in neonates with phenylketonuria in Hainan, China.
Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.
Variations in genotype-phenotype correlations in phenylketonuria patients.
Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
[A case report of mild from of phenylketonuria]
[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]
[Advances in the studies of molecular heredity of phenylketonuria.]
[Analysis for phenylalanine hydroxylase gene mutations in 35 ethnic Hui children from Ningxia with phenylketonuria].
[Analysis of large deletion of phenylalanine hydroxylase gene in Chinese patients with phenylketonuria].
[Analysis of mutations in exon 7 of phenylalanine hydroxylase gene among children with phenylketonuria in Ningxia, China].
[Analysis of mutations in the phenylalanine hydroxylase gene in Ukrainian families at high risk for phenylketonuria]
[Analysis of RFLP haplotypes and point mutations at the phenylalanine hydroxylase (PAH) locus in PKU families from north China]
[Analysis of short tandem repeats polymorphism in the phenylalanine hydroxylase gene and its application to prenatal gene diagnosis of phenylketonuria]
[Application of capillary non-gel sieving electrophoresis to the analysis of short tandem repeat in phenylalanine hydroxylase gene and gene diagnosis of phenylketonuria]
[Autosomal recessive diseases with mental retardation.]
[Characteristics of gene variants among patients with hyperphenylalaninemia from Quanzhou region of Fujian province].
[Characteristics of phenylalanine hydroxylase gene mutations among patients with phenylketonuria from Linyi region of Shandong Province].
[Classification and heterogeneity of hyperphenylalaninemias linked to a phenylalanine hydroxylase deficiency]
[Clinical study of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency in southern and northern Chinese patients]
[Comparative effects of different inhibitors of phenylalanine hydroxylase and dihydropteridine reductase. In vivo and in vitro study in rats]
[Correlation between genotypes and biochemical phenotypes of phenylalanine hydroxylase in patients with phenylketonuria].
[Detection of the mutant phenylalanine hydroxylase gene by dideoxy fingerprinting]
[Determination of phenylalanine hydroxylase in patients with phenylketonuria and hyperphenylalaninemia]
[Diagnosis and monitoring of phenylketonuria by LC-MS-MS in Morocco].
[Diagnosis, treatment and long-term following up of 223 patients with hyperphenylalaninemia detected by neonatal screening programs]
[Diagnostics and treatment of phenylketonuria.]
[Financial justification of investments into special diet for patients with phenylketonuria].
[Frequencies of 6 known mutations in phenylalanine hydroxylase gene and their application in prenatal gene diagnosis]
[Genetic analysis of 36 children affected with phenylalanine hydroxylase deficiency from Fujian].
[Genetic diagnosis of phenylketonuria. III. Mutations of phenylalanine hydroxylase gene in Orientals]
[Genetic diagnosis of phenylketonuria. IV. Mutations of phenylalanine hydroxylase gene in Caucasian and Gypsy populations in Czech and Slovakia Republics]
[Genetic diagnosis of phenylketonuria: identification of the mutations of phenylalanine hydroxylase gene by PCR direct sequencing]
[Genetic heterogeneity and approaches to the prenatal diagnosis of phenylketonuria (review)]
[Genetical heterogeneity of phenylketonuria]
[Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan].
[Hypomelanoses transmitted from generation to generation].
[Identification of a nature of mutation in the 12th exon of phenylalanine hydroxylase gene in patients with phenylketonuria]
[Identification of mutation of the phenylalanine hydroxylase gene using an automated DNA sequencer]
[Identification of mutations in the phenylalanine hydroxylase gene and exon 5 novel mutation Y166X(C-->G) in Yunnan]
[Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria]
[Independent origin of rare Y168H mutation of human phenylalanine hydroxylase gene in Russia]
[Lipids composition diet in phenylketonuric children with early diagnosis]
[MAOB: a modifier gene in phenylketonuria?]
[Molecular genetic aspects of phenylketonuria (PKU)]
[Molecular genetics of phenylketonuria in Orientals--linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene]
[Mutation analysis of phenylalanine hydroxylase gene in 55 patients with phenylketonuria from Hebei province].
[Mutation analysis of phenylalanine hydroxylase gene in patients w ith phenylketonuria in Henan province.]
[Mutation analysis of the PAH gene in children with phenylketonuria from the Qinghai area of China].
[Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province]
[Mutation analysis of the phenylalanine hydroxylase gene of phenylketonuria patients of Kemerovskaya Oblast' and Saha Republic].
[Mutation in the structure of exon 7 of the phenylalanine hydroxylase in phenylketonuria patients from the Novosibirsk area]
[Mutation of the phenylalanine hydroxylase gene in the population of central Bohemia. Relation to the clinical picture of phenylketonuria]
[Mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Tianjin and surrounding areas of Northern China]
[Mutations in exon 7 of the phenylalanine hydroxylase (PAH) gene in chinese patients with phenylketonuria]
[Mutations of phenylalanine hydroxylase gene detected in 20 patients with phenylketonuria from Yunnan Province].
[Mutations of the phenylalanine hydroxylase gene in phenylketonuria patients from Shaanxi].
[Neurological, neuropsychological, and ophtalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients].
[Novel mutations identified in exon 7 of phenylalanine hydroxylase gene in Chinese]
[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene]
[Phenylalanine hydroxylase activity in heterozygote hereditary carriers of the phenylketonuria gene]
[Phenylalanine hydroxylase activity in hyperphenyl-alaninemia and classical phenylketonuria]
[Phenylalanine hydroxylase activity in the liver in children with the classic form of phenylketonuria]
[Phenylalanine hydroxylase activity in the livers of patients with phenylketonuria]
[Phenylketonuria as a model system for DNA diagnosis of hereditary disorders]
[Phenylketonuria diagnosed during the neonatal period and breast feeding]
[Phenylketonuria yesterday and today. Evaluation of the work of systematic neonatal screening]
[Phenylketonuria]
[Prenatal screening for phenylketonuria in 2 families by trophoblast biopsy]
[Presence of active phenylalanine hydroxylase in human leukocytes]
[Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test]
[Screening for mutations in the PAH gene in Chinese: a new splice and a novel polymorphic mutation]
[Screening of phenylketonuria and analysis of phenylalanine hydroxylase gene in 380 996 newborns from Hainan province].
[Singleton and twin pregnancies of PKU patients - individual variability of phenylalanine tolerance: experience of a single treatment center (Preliminary report)].
[Spectrum and methods of detection of mutations in a phenylalanine hydroxylase gene from patients with phenylketonuria from the Novosibirsk region]
[Spectrum of phylalanine hydroxylase gene mutations and genotype-phenotype correlation in the patients with phenylketonuria in Beijing area of China]
[Study of the phenylalanine hydroxylase gene variants in patients with phenylketonuria from Jiangxi province].
[Study on the mutations of phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi province].
[Substitutive and dietetic approaches in childhood autistic disorder: interests and limits]
[Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria]
[Tetrahydrobiopterin therapy for hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. When and how?]
[The human genome--chromosome 12]
[The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family].
[The mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Henan province].
[The spectrum of mutational damage to the phenylalanine hydroxylase gene in patients with phenylketonuria in St. Petersburg]
[Use of modified Ayling's method for detection of homozygotes and heterozygotes for phenylketonuria gene]
[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.
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.
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.
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.
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.
In vivo evidence for compromised phenylalanine metabolism in vitiligo.
Specific interaction of the diastereomers 7(R)- and 7(S)-tetrahydrobiopterin with phenylalanine hydroxylase: implications for understanding primapterinuria and vitiligo.
The possible substrate inhibition of epidermal phenylalanine hydroxylase in vitiligo: a new pathogenetic approach.