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Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG
We recently redefined phosphoglucomutase-1 deficiency not only as an enzyme defect, involved in normal glycogen metabolism, but also an inborn error of protein glycosylation. Phosphoglucomutase-1 is a key enzyme in glycolysis and glycogenesis by catalyzing in the bidirectional transfer of phosphate...
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2014
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4180034/ https://ncbi.nlm.nih.gov/pubmed/24997537 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2014.06.002 |
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