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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Detaylı Bibliyografya
Asıl Yazarlar: Demaugre, F, Bonnefont, J P, Colonna, M, Cepanec, C, Leroux, J P, Saudubray, J M
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1991
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC329874/
https://ncbi.nlm.nih.gov/pubmed/1999498
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