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

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

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...

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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)
Format: Book
Published: Frontiers Media S.A., 2021-03-01T00:00:00Z.
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3rd Floor Main Library

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