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

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