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

• मुख्य लेखक: Esther M. Maier (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: MDPI AG, 2015-11-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...