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

• Hlavní autoři: Chris Stinton (Autor), Hannah Fraser (Autor), Julia Geppert (Autor), Rebecca Johnson (Autor), Martin Connock (Autor), Samantha Johnson (Autor), Aileen Clarke (Autor), Sian Taylor-Phillips (Autor)
• Médium: Kniha
• Vydáno: Frontiers Media S.A., 2021-03-01T00:00:00Z.
• Témata: article
• On-line přístup: 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...