Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics

Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies, causing altered levels of compounds associated w...

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Detalles Bibliográficos
Autores principales: Ismail, Israa T, Showalter, Megan R, Fiehn, Oliver
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6835511/
https://www.ncbi.nlm.nih.gov/pubmed/31640247
http://dx.doi.org/10.3390/metabo9100242

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6835511/
https://www.ncbi.nlm.nih.gov/pubmed/31640247
http://dx.doi.org/10.3390/metabo9100242

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