Hepatic and muscular forms of palmitoyl carnitine transferase deficiency.
Bonnefont
J P
JP
Clinique de génétique médicale et laboratoire INSERM U 75-C.H.U. Necker Enfants Malades, Paris, France.
Tein
I
I
Saudubray
J M
JM
Demaugre
F
F
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
D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase