Výsledky vyhledávání - "Juliet Klasing"

Molecular and Enzymatic Characterization of a Unique Carnitine Palmitoyltransferase 1A Mutation in the Hutterite Community

Autor: Carina Prip-Buus, Laure Thuillier, Nourredine Abadi, Chitra Prasad, Louise Dilling, Juliet Klasing, France Demaugre, Cheryl R. Greenberg, James C. Haworth, Véronique Droin, Noman Kadhom, Stéphanie Gobin, Pierre Kamoun, Jean Girard, Jean-Paul Bonnefont

Publikováno v: Molecular Genetics and Metabolism. 73:46-54

Hepatic carnitine palmitoyltransferase 1 (CPT1A) deficiency is a rare disorder of mitochondrial fatty acid oxidation inherited as an autosomal recessive trait. Symptomatology comprises attacks of hypoketotic hypoglycemia with risk of sudden death or

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e520e78d64ebc75c1148a68621e4510b
https://doi.org/10.1006/mgme.2001.3176

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