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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...

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Detalles Bibliográficos
Autores principales: Lee, Namgyu, Kim, Dohoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
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

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