Newborn Screening for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies Using Acylcarnitines Measurement in Dried Blood Spots-A Systematic Review of Test Accuracy

• Main Authors: Chris Stinton (Author), Hannah Fraser (Author), Julia Geppert (Author), Rebecca Johnson (Author), Martin Connock (Author), Samantha Johnson (Author), Aileen Clarke (Author), Sian Taylor-Phillips (Author)
• פורמט: ספר
• יצא לאור: Frontiers Media S.A., 2021-03-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Background: Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare autosomal recessive fatty acid β-oxidation disorders. Their clinical presentations are variable, and premature death is common. They are included in newborn blood spot s...