Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients.

We studied metabolic, polypeptide and genetic variation in eight glutaric acidemia type II (GA II) patients with electron transfer flavoprotein (ETF) deficiency. As measured by 3H-fatty acid oxidations in fibroblasts, beta-oxidation pathway flux correlated well with clinical phenotypes. In six patie...

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Detalhes bibliográficos
Principais autores: Freneaux, E, Sheffield, V C, Molin, L, Shires, A, Rhead, W J
Formato: Artigo
Idioma:Inglês
Publicado em: 1992
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC443224/
https://ncbi.nlm.nih.gov/pubmed/1430199
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