Ontrafelen van de pathofysiologie van aangeboren aandoeningen van glycosylering die het OST-complex beïnvloeden KU Leuven
Congenital disorders of glycosylation (CDG) are a group of over 100 inherited disorders characterised by defective glycosylation of proteins and lipids. Although the phenotypic and genetic characteristics of CDG as a whole are well established, their pathophysiology is poorly understood. In addition, the phenotype of affected patients is extremely variable, with dramatically different clinical presentations often appearing in patients with ...