Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency.
Santer
René
R
Department of Pediatrics, University of Kiel, Germany. santer@pediatrics.uni-kiel.de
Fingerhut
Ralph
R
Lässker
Uta
U
Wightman
Patrick J
PJ
Fitzpatrick
David R
DR
Olgemöller
Bernhard
B
Roscher
Adelbert A
AA
D002262:Carboxy-Lyases / Q000172:deficiency*; D002331:Carnitine / Q000031:analogs & derivatives* / Q000032:analysis*; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*; D012016:Reference Values; D021241:Spectrometry, Mass, Electrospray Ionization
D002262:Carboxy-Lyases; C021532:malonyl-CoA decarboxylase; D002331:Carnitine