Camille Wicker, Charles-Joris Roux, Louise Goujon, Yvan de Feraudy, Marie Hully, Anais Brassier, Claire-Marine Bérat, Nicole Chemaly, Arnaud Wiedemann, Lena Damaj, Marie-Thérèse Abi-Warde, Dries Dobbelaere, Agathe Roubertie, Aline Cano, Alina Arion, Anna Kaminska, Sabrina Da Costa, Arnaud Bruneel, Sandrine Vuillaumier-Barrot, Nathalie Boddaert, Tiffany Pascreau, Delphine Borgel, Manoelle Kossorotoff, Annie Harroche, P de Lonlay
OBJECTIVES: Patients with PMM2-CDG develop acute events (stroke-like episodes (SLEs), thromboses, haemorrhages, seizures, migraines) associated with both clotting factors (factor XI) and coagulation inhibitors (antithrombin, protein C and protein S) deficiencies. The aim of the study was to correlate acute events to haemostasis and propose practical guidelines. METHODS: In this multicentric retrospective study, we evaluated clinical, radiological, haemostasis and electroencephalography data for PMM2-CDG patients hospitalized for acute events...
July 31, 2023: Molecular Genetics and Metabolism