Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline

Inborn errors of metabolism (IEM) are inherited conditions caused by genetic defects in enzymes or cofactors. These defects result in a specific metabolic fingerprint in patient body fluids, showing accumulation of substrate or lack of an end-product of the defective enzymatic step. Untargeted metab...

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Detalles Bibliográficos
Autores principales: Hoegen, Brechtje, Zammit, Alan, Gerritsen, Albert, Engelke, Udo F. H., Castelein, Steven, van de Vorst, Maartje, Kluijtmans, Leo A. J., Huigen, Marleen C. D. G., Wevers, Ron A., van Gool, Alain J., Gilissen, Christian, Coene, Karlien L. M., Kulkarni, Purva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8470724/
https://www.ncbi.nlm.nih.gov/pubmed/34564390
http://dx.doi.org/10.3390/metabo11090568

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8470724/
https://www.ncbi.nlm.nih.gov/pubmed/34564390
http://dx.doi.org/10.3390/metabo11090568

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