Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)
Abstract Background PMM2-CDG (CDG-Ia) is the most frequent N-glycosylation disorder. While supplying mannose to PMM2-deficient fibroblasts corrects the altered N-glycosylation in vitro, short term therapeutic approaches with mannose supplementation in PMM2-CDG patients have been unsuccessful. Mannos...
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| Hauptverfasser: | , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMC
2020-09-01
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| Schriftenreihe: | Orphanet Journal of Rare Diseases |
| Schlagworte: | |
| Online-Zugang: | http://link.springer.com/article/10.1186/s13023-020-01528-z |
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