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Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients.

Medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCADH; EC 1.3.99.3) deficiency (MCD) is an inborn error of beta-oxidation. We measured 3H2O formed by the dehydrogenation of [2,3-3H]acyl-CoAs in a 3H-release assay. Short-chain acyl-CoA dehydrogenase (SCADH; EC 1.3.99.2), MCADH, and isovaleryl-CoA d...

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Publicat a:J Clin Invest
Autors principals: Amendt, B A, Rhead, W J
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 1985
Matèries:
Accés en línia:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC423960/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3840178/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI112096
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