Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients
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Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiencyMolecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expressionCarnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular reviewBeta-enolase deficiency, a new metabolic myopathy of distal glycolysisClear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.Identification by mutagenesis of a conserved glutamate (Glu487) residue important for catalytic activity in rat liver carnitine palmitoyltransferase IIMuscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical FeaturesStabilization of the thermolabile variant S113L of carnitine palmitoyltransferase II.Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency.Population-specific gene expression in the plant pathogenic nematode Heterodera glycines exists prior to infection and during the onset of a resistant or susceptible reaction in the roots of the Glycine max genotype PekingMitochondrial disorders. A diagnostic challenge in clinical chemistry.Inborn errors of mitochondrial fatty acid oxidation.An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individualsGenomics and genetics in the biology of adaptation to exercise.Diagnostic pitfall in antenatal manifestations of CPT II deficiency.Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.Diagnosis of mutations by the PCR double RFLP method (PCR-dRFLP).Carnitine palmitoyltransferase deficiency in a college athlete: a case report and literature review.Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria.Complementation analysis of carnitine palmitoyltransferase I and II defects.Mammalian mitochondrial beta-oxidation.The investigation and management of metabolic myopathies.Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy.Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency.Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C.Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt.Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients
P2860
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P2860
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients
description
1993 nî lūn-bûn
@nan
1993 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年学术文章
@wuu
1993年学术文章
@zh-cn
1993年学术文章
@zh-hans
1993年学术文章
@zh-my
1993年学术文章
@zh-sg
1993年學術文章
@yue
name
Identification of a common mut ...... current myoglobinuria patients
@ast
Identification of a common mut ...... current myoglobinuria patients
@en
Identification of a common mut ...... current myoglobinuria patients
@nl
type
label
Identification of a common mut ...... current myoglobinuria patients
@ast
Identification of a common mut ...... current myoglobinuria patients
@en
Identification of a common mut ...... current myoglobinuria patients
@nl
prefLabel
Identification of a common mut ...... current myoglobinuria patients
@ast
Identification of a common mut ...... current myoglobinuria patients
@en
Identification of a common mut ...... current myoglobinuria patients
@nl
P2093
P2860
P356
P1433
P1476
Identification of a common mut ...... current myoglobinuria patients
@en
P2093
P2860
P2888
P304
P356
10.1038/NG0793-314
P407
P577
1993-07-01T00:00:00Z