Unsuccessful intravenous D-mannose treatment in PMM2-CDG

Unsuccessful intravenous D-mannose treatment in PMM2-CDG

Abstract Background PMM2-CDG (Phosphomannomutase 2 - Congenital disorder of glycosylation-Ia; CDG-Ia) is the most common glycosylation defect, often presenting as a severe multisystem disorder that can be fatal within the first years of life. While mannose treatment has been shown to correct glycosy...

Full description

Bibliographic Details
Main Authors: Sarah C. Grünert, Thorsten Marquardt, Ekkehart Lausch, Hans Fuchs, Christian Thiel, Martin Sutter, Anke Schumann, Luciana Hannibal, Ute Spiekerkoetter
Format: Article
Language:English
Published: BMC 2019-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
PMM2-CDG
Congenital disorder of glycosylation
Mannose
Online Access:http://link.springer.com/article/10.1186/s13023-019-1213-3

Internet

http://link.springer.com/article/10.1186/s13023-019-1213-3

Similar Items