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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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| Publicado no: | Emerg Top Life Sci |
|---|---|
| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Portland Press Ltd.
2019
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| Assuntos: | |
| Acesso em linha: | 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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