Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry.
la Marca
Giancarlo
G
Malvagia
Sabrina
S
Donati
Maria Alice
MA
Morrone
Amelia
A
Pasquini
Elisabetta
E
Zammarchi
Enrico
E
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
C116917:acylcarnitine; D004247:DNA; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine