CORDIS Project
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This project investigates congenital disorders of glycosylation by linking genetic mutations to varying clinical presentations. It employs advanced omics technologies to explore gene regulation and glycoproteomic techniques to analyze affected proteins, aiming to enhance understanding of these inherited disorders.
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 mutations in the same gene. I plan to investigate the li…
KATHOLIEKE UNIVERSITEIT LEUVEN
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