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Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
Gobin S, Bonnefont JP, Prip-Buus C, Mugnier C, Ferrec M, Demaugre F, Saudubray JM, Rostane H, Djouadi F, Wilcox W, Cederbaum S, Haas R, Nyhan WL, Green A, Gray G, Girard J, Thuillier L. Gobin S, et al. Among authors: demaugre f. Hum Genet. 2002 Aug;111(2):179-89. doi: 10.1007/s00439-002-0752-0. Epub 2002 Jul 16. Hum Genet. 2002. PMID: 12189492
Carnitine palmitoyltransferase deficiencies.
Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, Thuillier L. Bonnefont JP, et al. Among authors: demaugre f. Mol Genet Metab. 1999 Dec;68(4):424-40. doi: 10.1006/mgme.1999.2938. Mol Genet Metab. 1999. PMID: 10607472 Review.
52 results