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Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)
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. Mannose found...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Orphanet J Rare Dis |
|---|---|
| Prif Awduron: | , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
BioMed Central
2020
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7510076/ https://ncbi.nlm.nih.gov/pubmed/32962735 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01528-z |
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