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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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Principais autores: Chris Stinton, Hannah Fraser, Julia Geppert, Rebecca Johnson, Martin Connock, Samantha Johnson, Aileen Clarke, Sian Taylor-Phillips
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021-03-01
coleção:Frontiers in Pediatrics
Assuntos:
systematic review
test accuracy
LCHAD deficiency
MTP deficiency
newborn blood spot screening
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fped.2021.606194/full
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