Substrate reduction therapy for inborn errors of metabolism

Inborn errors of metabolism (IEM) represent a growing group of monogenic disorders each associated with inherited defects in a metabolic enzyme or regulatory protein, leading to biochemical abnormalities arising from a metabolic block. Despite the well-established genetic linkage, pathophysiology an...

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Detalles Bibliográficos
Autores principales: Yue, Wyatt W., Mackinnon, Sabrina, Bezerra, Gustavo A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2019
Materias:
Review Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7289018/
https://www.ncbi.nlm.nih.gov/pubmed/33523197
http://dx.doi.org/10.1042/ETLS20180058

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7289018/
https://www.ncbi.nlm.nih.gov/pubmed/33523197
http://dx.doi.org/10.1042/ETLS20180058

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