Towards treatments of Congenital Disorders of Glycosylation KU Leuven
Congenital disorders of glycosylation (CDG) are severe multisystemic
inborn errors of metabolism. For most of these orphan diseases,
there is only supportive therapy, therefor constituting an unmet
medical need. In PMM2-CDG, the most frequent CDG, despite its
genetic characterization and clarification of enzymatic dysfunction,
there is insufficient insight in the pathophysiology to adequately
develop ...