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...

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Bibliographic Details
Published in:Orphanet J Rare Dis
Main Authors: Taday, Roman, Grüneberg, Marianne, DuChesne, Ingrid, Reunert, Janine, Marquardt, Thorsten
Format: Artigo
Language:Inglês
Published: BioMed Central 2020
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Research
Online Access: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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