Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan. [electronic resource]
- Pediatric research Dec 2008
- 667-72 p. digital
Publication Type: Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
1530-0447
10.1203/PDR.0b013e318187cc44 doi
Acyl Coenzyme A--metabolism Acyl-CoA Dehydrogenase, Long-Chain--deficiency Adolescent Adult Child Child, Preschool Female Humans Infant, Newborn Japan Lipid Metabolism Disorders--diagnosis Male Neonatal Screening--methods Palmitoyl Coenzyme A--metabolism Tandem Mass Spectrometry--methods Young Adult