Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening.
Malvagia
Sabrina
S
La Marca
Giancarlo
G
Casetta
Bruno
B
Gasperini
Serena
S
Pasquini
Elisabetta
E
Donati
Maria Alice
MA
Zammarchi
Enrico
E
D016477:Artifacts; D002331:Carnitine / Q000032:analysis* / Q000097:blood*; D003241:Consanguinity; D005189:False Positive Reactions; D005260:Female; D051042:Glutamate Formimidoyltransferase / Q000172:deficiency*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology; D015997:Neonatal Screening; D021241:Spectrometry, Mass, Electrospray Ionization
D051042:Glutamate Formimidoyltransferase; D002331:Carnitine