Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) | Orphanet Journal of Rare Diseases | Full Text

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) | Orphanet Journal of Rare Diseases | Full Text

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)

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 mann...

Authors:Roman Taday, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert and Thorsten Marquardt

Citation:Orphanet Journal of Rare Diseases 2020 15:258

Content type:Research

 

Published on: 22 September 2020

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