Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

With the implementation of tandem mass spectrometry (MS/MS), neonatal screening for medium-chain acyl-CoA dehydrogenase (MCADD) has been introduced in many screening programs worldwide. Together with phenylketonuria, MCADD is the disorder most frequently diagnosed. Despite undeniable beneficial effe...

Full description

Bibliographic Details
Main Author: Esther M. Maier
Format: Article
Language:English
Published: MDPI AG 2015-11-01
Series:International Journal of Neonatal Screening
Subjects:
medium-chain acyl-CoA dehydrogenase
neonatal screening
newborn screening
tandem mass spectrometry
confirmation of positive screening results
Online Access:http://www.mdpi.com/2409-515X/1/3/79

Internet

http://www.mdpi.com/2409-515X/1/3/79

Similar Items