Article
Congenital disorders of glycosylation (CDG): Quo vadis?
European journal of medical genetics - 1 Nov 2018
Péanne Romain, de Lonlay Pascale, Foulquier François, Kornak Uwe, Lefeber Dirk J, Morava Eva, Pérez Belén, Seta Nathalie, Thiel Christian, Van Schaftingen Emile, Matthijs Gert, Jaeken Jaak
Abstract excerpt
The survey summarizes in its first part the current status of knowledge on the Congenital Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and therapeutic strategies, and pathophysiology. It documents the clinical and basic research activities, and efforts to involve patients and their families. In the second part, it tries to look into the future of CDG. More specific...
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