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...
| Auteurs principaux: | , , |
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| Format: | Journal article |
| Langue: | English |
| Publié: |
Portland Press
2019
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