title: Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Malvagia
authors.forename: Giancarlo
authors.initials: G
authors.lastname: La Marca
authors.forename: Bruno
authors.initials: B
authors.lastname: Casetta
authors.forename: Serena
authors.initials: S
authors.lastname: Gasperini
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Pasquini
authors.forename: Maria Alice
authors.initials: MA
authors.lastname: Donati
authors.forename: Enrico
authors.initials: E
authors.lastname: Zammarchi
mesh_terms: 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
chemical_list: D051042:Glutamate Formimidoyltransferase; D002331:Carnitine