Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

Carnitine palmitoyltransferase (CPT) II deficiency, an inherited disorder of mitochondrial long-chain fatty-acid (LCFA) oxidation, results in two distinct clinical phenotypes, namely, an adult (muscular) form and an infantile (hepatocardiomuscular) form. The rationale of this phenotypic heterogeneit...

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Autores principales: Bonnefont, J. P., Taroni, F., Cavadini, P., Cepanec, C., Brivet, M., Saudubray, J. M., Leroux, J. P., Demaugre, F.
Formato: Artigo
Lenguaje:Inglês
Publicado: 1996
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914604/
https://ncbi.nlm.nih.gov/pubmed/8651281
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