Neonatal carnitine palmitoyltransferase deficiency: a case with a muscular presentation.
Land
J M
JM
Department of Clinical Biochemistry, John Radcliffe Hospital, Oxford, U.K.
Mistry
S
S
Squier
W
W
Hope
P
P
Orford
M
M
Saggerson
E D
ED
D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000201:enzymology*; D008931:Mitochondria, Muscle / Q000201:enzymology; D009135:Muscular Diseases / Q000201:enzymology* / Q000473:pathology
D002334:Carnitine O-Palmitoyltransferase