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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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Библиографические подробности
Опубликовано в: :Metabolites
Главные авторы: Ismail, Israa T, Showalter, Megan R, Fiehn, Oliver
Формат: Artigo
Язык:Inglês
Опубликовано: MDPI 2019
Предметы:
Online-ссылка: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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