MAN1B1-CDG: Three new individuals and associated biochemical profiles

MAN1B1-CDG: Three new individuals and associated biochemical profiles

Congenital disorders of glycosylation (CDG) constitute an ever-growing group of genetic diseases affecting the glycosylation of proteins. CDG individuals usually present with severe multisystem disorders. MAN1B1-CDG is a CDG with nonspecific clinical symptoms such as intellectual deficiency and deve...

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Bibliographic Details
Main Authors: Soraya Sakhi, Sophie Cholet, Samer Wehbi, Bertrand Isidor, Benjamin Cogne, Sandrine Vuillaumier-Barrot, Thierry Dupré, Trost Detleft, Emmanuelle Schmitt, Bruno Leheup, Céline Bonnet, François Feillet, Christine Muti, François Fenaille, Arnaud Bruneel
Format: Article
Language:English
Published: Elsevier 2021-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
CDG
Hypersialorrhea
Intellectual disability
MAN1B1
N-glycan mass spectrometry
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000690

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http://www.sciencedirect.com/science/article/pii/S2214426921000690

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