title: Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry.
authors.forename: Giancarlo
authors.initials: G
authors.lastname: la Marca
authors.forename: Sabrina
authors.initials: S
authors.lastname: Malvagia
authors.forename: Maria Alice
authors.initials: MA
authors.lastname: Donati
authors.forename: Amelia
authors.initials: A
authors.lastname: Morrone
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Pasquini
authors.forename: Enrico
authors.initials: E
authors.lastname: Zammarchi
mesh_terms: D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency*; D002138:Calibration; D002331:Carnitine / Q000031:analogs & derivatives* / Q000097:blood; D002851:Chromatography, High Pressure Liquid; D004247:DNA / Q000737:chemistry / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013058:Mass Spectrometry; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D015997:Neonatal Screening; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: C116917:acylcarnitine; D004247:DNA; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine