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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Publicado en:Front Pediatr
Autores principales: Stinton, Chris, Fraser, Hannah, Geppert, Julia, Johnson, Rebecca, Connock, Martin, Johnson, Samantha, Clarke, Aileen, Taylor-Phillips, Sian
Formato: Artigo
Lenguaje:Inglês
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC8017228/
https://ncbi.nlm.nih.gov/pubmed/33816395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2021.606194
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