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acetyl-coa c-acyltransferase deficiency
Inhibition of the glycine cleavage system by branched-chain amino acid metabolites.
acetyl-coa c-acyltransferase deficiency
Tiglylglycine excreted in urine in disorders of isoleucine metabolism and the respiratory chain measured by stable isotope dilution GC-MS.
Acidosis
Autism spectrum disorder in a child with propionic acidemia.
Acidosis
Propionic acidemia in a parturient presenting for induction of labor.
Agammaglobulinemia
Parathyroid hormone resistance and B cell lymphopenia in propionic acidemia.
carbonic anhydrase deficiency
Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood.
Cardiomyopathies
Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy.
Clonorchiasis
The identification of antigenic proteins: 14-3-3 protein and propionyl-CoA carboxylase in Clonorchis sinensis.
Coma
Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Propionic acidemia in a parturient presenting for induction of labor.
Hyperglycemia
Acute neonatal nonketotic hyperglycinemia: normal propionate and methylmalonate metabolism.
Hyperglycinemia, Nonketotic
Effect of valine on propionate metabolism in control and hyperglycinemic fibroblasts and in rat liver.
Hypocalcemia
Parathyroid hormone resistance and B cell lymphopenia in propionic acidemia.
Infections
Parathyroid hormone resistance and B cell lymphopenia in propionic acidemia.
Ketosis
Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.
Ketosis
Propionic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder.
Lethargy
Propionic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder.
Metabolic Diseases
Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.
Metabolic Diseases
Intracellular calcium mishandling leads to cardiac dysfunction and ventricular arrhythmias in a mouse model of propionic acidemia.
Metabolic Diseases
Propionic Acidemia and Optic Neuropathy: A Report of Two Cases.
Metabolic Diseases
Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.
Metabolic Diseases
Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group.
Metabolic Diseases
Subacute presentation of propionic acidemia.
Metabolism, Inborn Errors
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Metabolism, Inborn Errors
Rapid and sensitive method for prenatal diagnosis of propionic acidemia using stable isotope dilution gas chromatography-mass spectrometry and urease pretreatment.
Mitochondrial Diseases
Increased protein propionylation contributes to mitochondrial dysfunction in liver cells and fibroblasts, but not in myotubes.
Perinatal Death
Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.
Propionic Acidemia
2-hydroxy-2-methylsuccinic acid--a urinary metabolite in propionyl-CoA carboxylase deficiency.
Propionic Acidemia
A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiency.
Propionic Acidemia
A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report.
Propionic Acidemia
A Novel PCCA Mutation in a Patient With Late-Onset Propionic Acidemia Identified by Genetic Diagnosis Panel.
Propionic Acidemia
A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci.
Propionic Acidemia
Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency.
Propionic Acidemia
Activation of propionyl-CoA carboxylase in skin fibroblasts from a patient with propionicacidemia.
Propionic Acidemia
Acute neonatal nonketotic hyperglycinemia: normal propionate and methylmalonate metabolism.
Propionic Acidemia
Adeno-associated virus serotype 8 (AAV8) Gene Transfer Rescues a Neonatal Lethal Murine Model of Propionic Acidemia.
Propionic Acidemia
An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.
Propionic Acidemia
An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.
Propionic Acidemia
Anaesthetic considerations for liver transplantation in propionic acidemia.
Propionic Acidemia
Anesthetic Management for Pediatric Liver Transplantation in a Patient With Propionic Acidemia: A Case Report.
Propionic Acidemia
Antioxidants successfully reduce ROS production in propionic acidemia fibroblasts.
Propionic Acidemia
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism.
Propionic Acidemia
Assignment of the alpha and beta chains of human propionyl-CoA carboxylase to genetic complementation groups.
Propionic Acidemia
Autism spectrum disorder in a child with propionic acidemia.
Propionic Acidemia
Autism spectrum disorders in propionic acidemia patients.
Propionic Acidemia
Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
Propionic Acidemia
Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.
Propionic Acidemia
Cardiac phenotype in propionic acidemia - Results of an observational monocentric study.
Propionic Acidemia
Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia.
Propionic Acidemia
Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia.
Propionic Acidemia
Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.
Propionic Acidemia
Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia.
Propionic Acidemia
Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.
Propionic Acidemia
Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia.
Propionic Acidemia
Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia.
Propionic Acidemia
Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit.
Propionic Acidemia
Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene.
Propionic Acidemia
Dietary management and growth outcomes in children with propionic acidemia: A natural history study.
Propionic Acidemia
Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency.
Propionic Acidemia
Disturbance of bioenergetics and calcium homeostasis provoked by metabolites accumulating in propionic acidemia in heart mitochondria of developing rats.
Propionic Acidemia
Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.
Propionic Acidemia
Effect of valine on propionate metabolism in control and hyperglycinemic fibroblasts and in rat liver.
Propionic Acidemia
Effects of adeno-associated virus serotype and tissue-specific expression on circulating biomarkers of propionic acidemia.
Propionic Acidemia
Epilepsy in patients with propionic acidemia.
Propionic Acidemia
Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene.
Propionic Acidemia
Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.
Propionic Acidemia
Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.
Propionic Acidemia
Functional characterization of PCCA mutations causing propionic acidemia.
Propionic Acidemia
Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.
Propionic Acidemia
Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.
Propionic Acidemia
Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.
Propionic Acidemia
Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias.
Propionic Acidemia
In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder.
Propionic Acidemia
Increased excretion of propan-1,3-diol and 3-hydroxypropionic acid apparently caused by abnormal bacterial metabolism in the gut.
Propionic Acidemia
Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome.
Propionic Acidemia
Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia".
Propionic Acidemia
Inhibition of the glycine cleavage system by branched-chain amino acid metabolites.
Propionic Acidemia
Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.
Propionic Acidemia
Intracellular calcium mishandling leads to cardiac dysfunction and ventricular arrhythmias in a mouse model of propionic acidemia.
Propionic Acidemia
Intractable metabolic acidosis in a child with propionic acidemia undergoing liver transplantation -a case report-
Propionic Acidemia
Leukocyte propionyl-CoA carboxylase deficiency in a patient with ketotic hyperglycinaemia.
Propionic Acidemia
Long QT syndrome diagnosed in two sisters with propionic acidemia: a case report.
Propionic Acidemia
Long-term Sex-Biased Correction of Circulating Propionic Acidemia Disease Markers by Adeno-Associated Virus Vectors.
Propionic Acidemia
Mechanisms of acquired long QT syndrome in patients with propionic academia.
Propionic Acidemia
Metabolic studies of carnitine in a child with propionic acidemia.
Propionic Acidemia
Mitochondrial damage in renal epithelial cells is potentiated by protein exposure in propionic aciduria.
Propionic Acidemia
Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism.
Propionic Acidemia
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.
Propionic Acidemia
Mutations participating in interallelic complementation in propionic acidemia.
Propionic Acidemia
Natural variation in a glucuronosyltransferase modulates propionate sensitivity in a C. elegans propionic acidemia model.
Propionic Acidemia
New splicing mutations in propionic acidemia.
Propionic Acidemia
Novel variants of the PCCB gene in Chinese patients with propionic acidemia.
Propionic Acidemia
Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia.
Propionic Acidemia
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
Propionic Acidemia
Parathyroid hormone resistance and B cell lymphopenia in propionic acidemia.
Propionic Acidemia
Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy.
Propionic Acidemia
Pitfalls in the prenatal diagnosis of propionic acidemia.
Propionic Acidemia
Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia.
Propionic Acidemia
Propionate enters GABAergic neurons, inhibits GABA transaminase, causes GABA accumulation and lethargy in a model of propionic acidemia.
Propionic Acidemia
Propionic acid induces convulsions and protein carbonylation in rats.
Propionic Acidemia
Propionic Acidemia and Optic Neuropathy: A Report of Two Cases.
Propionic Acidemia
Propionic Acidemia Associated With Visual Hallucinations.
Propionic Acidemia
Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF) with parents who were unknown carriers of a PCCA mutation.
Propionic Acidemia
Propionic acidemia in a parturient presenting for induction of labor.
Propionic Acidemia
Propionic acidemia in the Arab World.
Propionic Acidemia
Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child.
Propionic Acidemia
Propionic acidemia: a rare cause of cardiomyopathy.
Propionic Acidemia
Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.
Propionic Acidemia
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
Propionic Acidemia
Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.
Propionic Acidemia
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Propionic Acidemia
Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group.
Propionic Acidemia
Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria.
Propionic Acidemia
Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels.
Propionic Acidemia
Propionyl-CoA carboxylase deficiency: case report, effect of low-protein diet and identification of 3-oxo-2-methylvaleric acid 3-hydroxy-2-methylvaleric acid, and maleic acid in urine.
Propionic Acidemia
Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism.
Propionic Acidemia
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Propionic Acidemia
Rapid and sensitive method for prenatal diagnosis of propionic acidemia using stable isotope dilution gas chromatography-mass spectrometry and urease pretreatment.
Propionic Acidemia
Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance.
Propionic Acidemia
Stroke-like episodes in propionic acidemia caused by central focal metabolic decompensation.
Propionic Acidemia
Subacute presentation of propionic acidemia.
Propionic Acidemia
Survey of health status and complications among propionic acidemia patients.
Propionic Acidemia
Systematic literature review and meta-analysis on the epidemiology of propionic acidemia.
Propionic Acidemia
The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies.
Propionic Acidemia
The variability of metabolite excretion in propionicacidaemia.
Propionic Acidemia
Tiglylglycine excreted in urine in disorders of isoleucine metabolism and the respiratory chain measured by stable isotope dilution GC-MS.
Propionic Acidemia
Transcarboxylase 12S crystal structure: hexamer assembly and substrate binding to a multienzyme core.
Propionic Acidemia
Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits.
Propionic Acidemia
Two distinct mutations at the same site in the PCCB gene in propionic acidemia.
Propionic Acidemia
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
Propionic Acidemia
Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia.
Propionic Acidemia
[Clinical, biochemical and molecular findings of propionic acidemia].
Propionic Acidemia
[Effects of propionic acid metabolic precursors in biotin-deprived rats]
Propionic Acidemia
[Gene mutation analysis in patients with propionic acidemia]
Propionic Acidemia
[Juvenile glaucoma in propionic acidemia.]
Propionic Acidemia
[Molecular basis of organic acidemia--propionic acidemia]
Propionic Acidemia
[Neonatal onset of organic acidemia (propionic) diagnosed by tandem mass spectrometry]
Propionic Acidemia
[Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?]
Propionic Acidemia
[Propionic acidemia and sodium dipropylacetate]
propionyl-coa carboxylase deficiency
2-hydroxy-2-methylsuccinic acid--a urinary metabolite in propionyl-CoA carboxylase deficiency.
propionyl-coa carboxylase deficiency
A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiency.
propionyl-coa carboxylase deficiency
Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency.
propionyl-coa carboxylase deficiency
An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.
propionyl-coa carboxylase deficiency
Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia.
propionyl-coa carboxylase deficiency
Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency.
propionyl-coa carboxylase deficiency
Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.
propionyl-coa carboxylase deficiency
Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias.
propionyl-coa carboxylase deficiency
Increased excretion of propan-1,3-diol and 3-hydroxypropionic acid apparently caused by abnormal bacterial metabolism in the gut.
propionyl-coa carboxylase deficiency
Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome.
propionyl-coa carboxylase deficiency
Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia".
propionyl-coa carboxylase deficiency
Inhibition of the glycine cleavage system by branched-chain amino acid metabolites.
propionyl-coa carboxylase deficiency
Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.
propionyl-coa carboxylase deficiency
Leukocyte propionyl-CoA carboxylase deficiency in a patient with ketotic hyperglycinaemia.
propionyl-coa carboxylase deficiency
Parathyroid hormone resistance and B cell lymphopenia in propionic acidemia.
propionyl-coa carboxylase deficiency
Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria.
propionyl-coa carboxylase deficiency
Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels.
propionyl-coa carboxylase deficiency
Propionyl-CoA carboxylase deficiency: case report, effect of low-protein diet and identification of 3-oxo-2-methylvaleric acid 3-hydroxy-2-methylvaleric acid, and maleic acid in urine.
propionyl-coa carboxylase deficiency
Stroke-like episodes in propionic acidemia caused by central focal metabolic decompensation.
propionyl-coa carboxylase deficiency
The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies.
propionyl-coa carboxylase deficiency
The variability of metabolite excretion in propionicacidaemia.
propionyl-coa carboxylase deficiency
Tiglylglycine excreted in urine in disorders of isoleucine metabolism and the respiratory chain measured by stable isotope dilution GC-MS.
propionyl-coa carboxylase deficiency
Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia.
propionyl-coa carboxylase deficiency
[Effects of propionic acid metabolic precursors in biotin-deprived rats]
Seizures
Propionic acid induces convulsions and protein carbonylation in rats.
udp-galactopyranose mutase deficiency
Inhibition of the glycine cleavage system by branched-chain amino acid metabolites.
Vitamin E Deficiency
Possible interrelationship between vitamins E and b12 in the disturbance in methylmalonate metabolism in vitamin E deficiency.
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