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

History in autobiography

Autor: Tia Gitte Bondesen Hansen, Brown, Norman R., Louise Dilling, Mille Kjær

Publikováno v: Aalborg University
Hansen, T G B, Brown, N R, Dilling, L & Kjær, M 2007, ' History in autobiography ', Nordic Conference on Cultural and Activity Research, Oslo, Norway, 15/06/2007-17/06/2007 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::45c093533d2586a818395f071cd364af
https://vbn.aau.dk/en/publications/5ae6f380-a2ce-11dc-8188-000ea68e967b