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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...
Autores principales: | Stinton, Chris, Fraser, Hannah, Geppert, Julia, Johnson, Rebecca, Connock, Martin, Johnson, Samantha, Clarke, Aileen, Taylor-Phillips, Sian |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
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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