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]
Producer: 20090122Description: 667-72 p. digitalISSN:- 1530-0447
- 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
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Publication Type: Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
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