Adult carnitine palmitoyltransferase II deficiency: detection of characteristic carnitine esters in serum by tandem mass spectrometry.
Gempel
K
K
Institute for Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing, München, Germany. Gempel@lrz.uni-muenchen.de
Kottlors
M
M
Jaksch
M
M
Gerbitz
K D
KD
Bauer
M F
MF
D002331:Carnitine / Q000097:blood*; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D004952:Esters / Q000097:blood; D005227:Fatty Acids / Q000097:blood; D006801:Humans; D008297:Male; D013058:Mass Spectrometry; D008661:Metabolism, Inborn Errors / Q000201:enzymology*; D008875:Middle Aged; D009135:Muscular Diseases / Q000201:enzymology / Q000235:genetics; D009212:Myoglobinuria / Q000209:etiology / Q000235:genetics
D004952:Esters; D005227:Fatty Acids; D002334:Carnitine O-Palmitoyltransferase; D002331:Carnitine