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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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Bibliografski detalji
Izdano u:Emerg Top Life Sci
Glavni autori: Yue, Wyatt W., Mackinnon, Sabrina, Bezerra, Gustavo A.
Format: Artigo
Jezik:Inglês
Izdano: Portland Press Ltd. 2019
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7289018/
https://ncbi.nlm.nih.gov/pubmed/33523197
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/ETLS20180058
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