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

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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Bibliographic Details
Main Authors: Roman Taday, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert, Thorsten Marquardt
Format: Article
Language:English
Published: BMC 2020-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
PMM2
Congenital disorder of glycosylation (CDG)
Glycoprotein profile
Mannose
Therapy
Online Access:http://link.springer.com/article/10.1186/s13023-020-01528-z

Internet

http://link.springer.com/article/10.1186/s13023-020-01528-z

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