Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.

Reported cases of carnitine palmitoyltransferase II (CPT II) deficiency are characterized only by a muscular symptomatology in young adults although the defect is expressed in extra-muscular tissues as well as in skeletal muscle. We describe here a CPT II deficiency associating hypoketotic hypoglyce...

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Veröffentlicht in:	J Clin Invest
Hauptverfasser:	Demaugre, F, Bonnefont, J P, Colonna, M, Cepanec, C, Leroux, J P, Saudubray, J M
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	American Society for Clinical Investigation 1991
Schlagworte:	Research Article
Online-Zugang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC329874/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1999498/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115090
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