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Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other
In inborn errors of metabolism, such as amino acid breakdown disorders, loss of function mutations in metabolic enzymes within the catabolism pathway lead to an accumulation of the catabolic intermediate that is the substrate of the mutated enzyme. In patients of such disorders, dietarily restrictin...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9231173/ https://www.ncbi.nlm.nih.gov/pubmed/35736461 http://dx.doi.org/10.3390/metabo12060527 |