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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Front Pediatr
Auteurs principaux: Stinton, Chris, Fraser, Hannah, Geppert, Julia, Johnson, Rebecca, Connock, Martin, Johnson, Samantha, Clarke, Aileen, Taylor-Phillips, Sian
Format: Artigo
Langue:Inglês
Publié: Frontiers Media S.A. 2021
Sujets:
Pediatrics
Accès en ligne: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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires