The challenge of CDG diagnosis

Francisco, R; Marques-Da-Silva, D; Brasil, S; Pascoal, C; dos Reis, VF; Morava, E; Jaeken, J

Jaeken, J (reprint author), CDG & Allies PPAIN, Lisbon, Portugal.; Jaeken, J (reprint author), UZ & KU Leuven, Ctr Metab Dis, Leuven, Belgium.

MOLECULAR GENETICS AND METABOLISM, 2019; 126 (1): 1

Abstract

Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases that currently includes some 130 different types. CDG dia......

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