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Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders

Fatty acid oxidation disorders (FAODs) are potentially fatal inherited disorders for which management focuses on early disease detection and dietary intervention to reduce the impact of metabolic crises and associated spectrum of clinical symptoms. They can be divided functionally into long-chain (L...

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Detalles Bibliográficos
Autores principales: Marsden, Deborah, Bedrosian, Camille L., Vockley, Jerry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8105167/
https://www.ncbi.nlm.nih.gov/pubmed/33495527
http://dx.doi.org/10.1038/s41436-020-01070-0