MAN1B1-CDG: Three new individuals and associated biochemical profiles

Sakhi, S; Cholet, S; Wehbi, S; Isidor, B; Cogne, B; Vuillaumier-Barrot, S; Dupre, T; Detleft, T; Schmitt, E; Leheup, B; Bonnet, C; Feillet, F; Muti, C; Fenaille, F; Bruneel, A

Bruneel, A (corresponding author), Hop Bichat Claude Bernard, Biochim Metab & Cellulaire, 46 Rue Henri Huchard, F-75018 Paris, France.

MOLECULAR GENETICS AND METABOLISM REPORTS, 2021; 28 ():

Abstract

Congenital disorders of glycosylation (CDG) constitute an ever-growing group of genetic diseases affecting the glycosylation of proteins. CDG individu......

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