title: Hepatic and muscular forms of palmitoyl carnitine transferase deficiency.
authors.affiliation: Clinique de génétique médicale et laboratoire INSERM U 75-C.H.U. Necker Enfants Malades, Paris, France.
authors.forename: J P
authors.initials: JP
authors.lastname: Bonnefont
authors.forename: I
authors.initials: I
authors.lastname: Tein
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
authors.forename: F
authors.initials: F
authors.lastname: Demaugre
mesh_terms: D000217:Acyltransferases / Q000172:deficiency*; D015153:Blotting, Western; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics; D002460:Cell Line; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008099:Liver / Q000201:enzymology; D008107:Liver Diseases / Q000150:complications / Q000235:genetics / Q000378:metabolism*; D009135:Muscular Diseases / Q000150:complications / Q000235:genetics / Q000378:metabolism*; D009154:Mutation; D011233:Precipitin Tests
chemical_list: D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase