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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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Detalhes bibliográficos
Publicado no:Metabolites
Main Authors: Ismail, Israa T, Showalter, Megan R, Fiehn, Oliver
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6835511/
https://ncbi.nlm.nih.gov/pubmed/31640247
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/metabo9100242
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