Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry.
Carpenter
K H
KH
NSW Biochemical Genetics Service, New Children's Hospital, Parramatta, Sydney, Australia.
Wilcken
B
B
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D000138:Acidosis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007003:Hypoglycemia; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis*; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; D013058:Mass Spectrometry; D015997:Neonatal Screening
D015094:3-Hydroxyacyl CoA Dehydrogenases; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase