Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism

Early diagnosis of inborn errors of metabolism (IEM)—a large group of congenital disorders—is critical, given that many respond well to targeted therapy. Newborn screening programs successfully capture a proportion of patients enabling early recognition and prompt initiation of therapy. For others,...

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Detalles Bibliográficos
Autores principales: Mordaunt, Dylan, Cox, David, Fuller, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7072749/
https://www.ncbi.nlm.nih.gov/pubmed/32054038
http://dx.doi.org/10.3390/ijms21041195

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7072749/
https://www.ncbi.nlm.nih.gov/pubmed/32054038
http://dx.doi.org/10.3390/ijms21041195

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