Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients

Duvet, S; Mouajjah, D; Peanne, R; Matthijs, G; Raymond, K; Jaeken, J; Morava, E; Foulquier, F

Duvet, S (reprint author), Univ Lille, CNRS, UMR 8576, UGSF,Unite Glycobiol Struct & Fonct, F-59000 Lille, France.

ELECTROPHORESIS, 2018; 39 (24): 3133

Abstract

Congenital disorders of glycosylation (CDG) are heterogeneous group of genetic protein and lipid glycosylation abnormalities. With some 33 reported pa......

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