Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns.
Chace
D H
DH
Neo Gen Screening, PO Box 219, Bridgeville, PA 15017, USA. dhchace@neogenscreening.com
DiPerna
J C
JC
Kalas
T A
TA
Johnson
R W
RW
Naylor
E W
EW
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D001800:Blood Specimen Collection; D002331:Carnitine / Q000031:analogs & derivatives* / Q000097:blood*; D005189:False Positive Reactions; D006801:Humans; D007231:Infant, Newborn; D008764:Methylmalonic Acid / Q000097:blood*; D010209:Paper; D011422:Propionates / Q000097:blood*; D021241:Spectrometry, Mass, Electrospray Ionization
D011422:Propionates; C003223:propionylcarnitine; D008764:Methylmalonic Acid; C029658:propionic acid; D002331:Carnitine