Cargando…
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,...
Autores principales: | Mordaunt, Dylan, Cox, David, Fuller, Maria |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
|
Materias: | |
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 |
Ejemplares similares
-
Understanding Inborn Errors of Metabolism through Metabolomics
por: Driesen, Karen, et al.
Publicado: (2022) -
Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics
por: Ismail, Israa T, et al.
Publicado: (2019) -
Metabolomic Studies in Inborn Errors of Metabolism: Last Years and Future Perspectives
por: Cossu, Marcello, et al.
Publicado: (2023) -
Inborn errors in the metabolism of glutathione
por: Ristoff, Ellinor, et al.
Publicado: (2007) -
Carnitine Inborn Errors of Metabolism
por: Almannai, Mohammed, et al.
Publicado: (2019)