D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial

Abstract PMM2-CDG is the most prevalent congenital disorder of glycosylation (CDG) with only symptomatic therapy. Some CDG have been successfully treated with D-galactose. We performed an open-label pilot trial with D-galactose in 9 PMM2-CDG patients. Overall, there was no significant improvement bu...

Full description

Bibliographic Details
Main Authors: Peter Witters, Hans Andersson, Jaak Jaeken, Laura Tseng, Clara D. M. van Karnebeek, Dirk J. Lefeber, David Cassiman, Eva Morava
Format: Article
Language:English
Published: BMC 2021-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
PMM2-CDG
D-galactose
Glycosylation
Congenital disorder of glycosylation (CDG)
Nijmegen pediatric CDG rating scale (NPCRS)
Online Access:https://doi.org/10.1186/s13023-020-01609-z

Internet

https://doi.org/10.1186/s13023-020-01609-z

Similar Items