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Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies

Archive ouverte | Pascreau, Tiffany | CCSD

International audience. Background: Congenital disorders of glycosylation are rare inherited diseases affecting many different proteins. The lack of glycosylation notably affects the hemostatic system and leads to d...

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

Archive ouverte | Altassan, Ruqaiah | CCSD

International audience. Abstract Phosphomannomutase 2 (PMM2‐CDG) is the most common congenital disorder of N‐glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2‐...

N-Glycosylation Deficiency Reduces the Activation of Protein C and Disrupts Endothelial Barrier Integrity

Archive ouverte | Pascreau, Tiffany | CCSD

International audience. Phosphomannomutase 2 (PMM2) deficiency is the most prevalent congenital disorder of glycosylation. It is associated with coagulopathy, including protein C deficiency. Since all components of ...

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