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...
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MDPI AG,
2015-11-01T00:00:00Z.
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