Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients.

We describe two patients with short-chain acyl-coenzyme A (CoA) dehydrogenase (SCADH) deficiency. Neonate I excreted large amounts of ethylmalonate and methylsuccinate; ethylmalonate excretion increased after a medium-chain triglyceride load. Neonate II died postnatally and excreted ethylmalonate, b...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Amendt, B A, Greene, C, Sweetman, L, Cloherty, J, Shih, V, Moon, A, Teel, L, Rhead, W J
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 1987
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC424368/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3571488/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI112953
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