title: Adult carnitine palmitoyltransferase II deficiency: detection of characteristic carnitine esters in serum by tandem mass spectrometry.
authors.affiliation: Institute for Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing, München, Germany. Gempel@lrz.uni-muenchen.de
authors.forename: K
authors.initials: K
authors.lastname: Gempel
authors.forename: M
authors.initials: M
authors.lastname: Kottlors
authors.forename: M
authors.initials: M
authors.lastname: Jaksch
authors.forename: K D
authors.initials: KD
authors.lastname: Gerbitz
authors.forename: M F
authors.initials: MF
authors.lastname: Bauer
mesh_terms: 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
chemical_list: D004952:Esters; D005227:Fatty Acids; D002334:Carnitine O-Palmitoyltransferase; D002331:Carnitine