Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry
Author:
Affiliation:
1. ; NSW Biochemical Genetics Service; The New Children's Hospital; PO Box 3515 Parramatta (Sydney) NSW 2124 Australia
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005566309942/fullpdf
Reference3 articles.
1. 3-Hydroxydicarboxylic aciduria due to long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective e.ect of medium-chain triglyceride treatment;Duran;Eur J Pediatr,1991
2. The clinical spectrum of long chain 3-hydroxyacyl- CoA dehydrogenase deficiency;Pons;Pediatr Neurol,1996
3. Long chain 3-hydroxyacy-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of 13 patients;Tyni;J Pediatr,1997
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