Tajima, Go

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