Congenital disorders of glycosylation (CDG), a multigenetic disease family with multiple subcellular locations

2023/01/24 by Jaeken, Jaak

paper · doi:10.34763/jmotherandchild.20202402si.2005.000004

Abstract

This review discusses a selection of congenital disorders of glycosylation that show peculiar features, such as an unusual presentation, different phenotypes, a novel biochemical/genetic mechanism, a relatively high frequency or a relatively efficient treatment.

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