Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia

Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia

Item
http://www.wikidata.org/entity/Q28615562
Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemiaSpecific glutaryl-CoA dehydrogenating activity is deficient in cultured fibroblasts from glutaric aciduria patientsMitochondrial malic enzyme in Friedreich's ataxia: failure to demonstrate reduced activity in cultured fibroblasts.Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts.Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patientsGyrate atrophy of the choroid and retina: characterization of mutant ornithine aminotransferase and mechanism of response to vitamin B6.The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.Isovaleryl-CoA dehydrogenase: demonstration in rat liver mitochondria by ion exchange chromatography and isoelectric focusingIsovaleric acidemia: new aspects of genetic and phenotypic heterogeneityComplementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.Molecular heterogeneity of variant isovaleryl-CoA dehydrogenase from cultured isovaleric acidemia fibroblasts."Classical organic acidurias": diagnosis and pathogenesis.Enzymes involved in branched-chain amino acid metabolism in humans.Organic acidurias and related abnormalities.isovaleryl-CoA + FAD => beta-methylcrotonyl-CoA + FADH2
P2860

Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia

Item
http://www.wikidata.org/entity/Q28615562
description
1980 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1980 թվականի հունվարին հրատարակված գիտական հոդված
@hy
article publié dans les Procee ...... f the United States of America
@fr
artículu científicu espublizáu en 1980
@ast
im Januar 1980 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1980/01/01)
@sk
vědecký článek publikovaný v roce 1980
@cs
wetenschappelijk artikel (gepubliceerd op 1980/01/01)
@nl
наукова стаття, опублікована в січні 1980
@uk
name
Demonstration of a specific mi ...... ients with isovaleric acidemia
@ast
Demonstration of a specific mi ...... ients with isovaleric acidemia
@en
Demonstration of a specific mi ...... ients with isovaleric acidemia
@nl
type
label
Demonstration of a specific mi ...... ients with isovaleric acidemia
@ast
Demonstration of a specific mi ...... ients with isovaleric acidemia
@en
Demonstration of a specific mi ...... ients with isovaleric acidemia
@nl
prefLabel
Demonstration of a specific mi ...... ients with isovaleric acidemia
@ast
Demonstration of a specific mi ...... ients with isovaleric acidemia
@en
Demonstration of a specific mi ...... ients with isovaleric acidemia
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P921
P932
P356
P1433
P1476
Demonstration of a specific mi ...... ients with isovaleric acidemia
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P921
P932