Pathophysiological approach to carnitine palmitoyltransferase II deficiencies.
Demaugre
F
F
INSERM U75, CHU Necker, Paris, France.
Bonnefont
J P
JP
Brivet
M
M
Cepanec
C
C
Pollitt
R J
RJ
Priestley
B L
BL
Saudubray
J M
JM
Leroux
J P
JP
D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics; D005227:Fatty Acids / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000201:enzymology*; D010084:Oxidation-Reduction; D012333:RNA, Messenger / Q000235:genetics
D005227:Fatty Acids; D012333:RNA, Messenger; D002334:Carnitine O-Palmitoyltransferase