Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.

Deficiency of the enzymes of mitochondrial fatty acid oxidation and related carnitine dependent steps have been shown to be one of the causes of the fasting-induced hypoketotic hypoglycemia. We describe here carnitine-acylcarnitine translocase deficiency in a neonate who died eight days after birth....

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Pubblicato in:	J Clin Invest
Autori principali:	Pande, S V, Brivet, M, Slama, A, Demaugre, F, Aufrant, C, Saudubray, J M
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	American Society for Clinical Investigation 1993
Soggetti:	Research Article
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC288085/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8450053/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116288
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