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

• প্রধান লেখক: Esther M. Maier (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: MDPI AG, 2015-11-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...