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International Journal of Molecular Sciences|February 21, 2017
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and TreatmentsJérôme Stirnemann, Nadia Belmatoug, Fabrice Camou, et al.
Blood|December 6, 2012
Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher diseaseMelanie Franco, Emmanuel Collec, Philippe Connes, et al.
Orphanet Journal of Rare Diseases|September 13, 2014
Behcet's disease in Budd-Chiari syndromeAnne Claire Desbois, Pierre Emmanuel Rautou, Lucie Biard, et al.
Frontiers in Neurology|January 31, 2018
Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological FindingsTatiana Bremova-Ertl, Raphael Schiffmann, Marc C Patterson, et al.
European Journal of Internal Medicine|August 15, 2016
Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in EuropeNadia Belmatoug, Maja Di Rocco, Cristina Fraga, et al.
British Journal of Haematology|May 30, 2012
Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 yearsCarla E M Hollak, Nadia Belmatoug, J Alexander Cole, et al.
Autoimmunity|April 25, 2007
Antibodies to myelin protein zero (P0) protein as markers of auto-immune inner ear diseasesBach-Nga Pham, Milan Rudic, Didier Bouccara, et al.
Journal of Clinical Laboratory Analysis|December 27, 2024
Lysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass SpectrometryFranklin Ducatez, Wladimir Mauhin, Jules Ottaviani, et al.
Orphanet Journal of Rare Diseases|August 5, 2024
Acid sphingomyelinase deficiency in France: a retrospective survival studyWladimir Mauhin, Nathalie Guffon, Marie T Vanier, et al.
Orphanet Journal of Rare Diseases|January 7, 2022
Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trialsDeborah Elstein, Nadia Belmatoug, Patrick Deegan, et al.
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