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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2019
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| Materias: | |
| 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 |