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Molecular Genetics and Metabolism|July 7, 2021
Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and GaucheromaUma Ramaswami, Eugen Mengel, Abdelkrim Berrah, et al.Journal of Medical Genetics|February 9, 2012
Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry diseaseDerralynn A Hughes, Mia Malmenäs, Patrick B Deegan, et al.European Journal of Clinical Investigation|November 6, 2025
Long-term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome SurveyDerralynn A Hughes, Guillem Pintos-Morell, Christoph Kampmann, et al.Molecular Genetics and Metabolism Reports|April 25, 2025
Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapyUma Ramaswami, Guillem Pintos-Morell, Christoph Kampmann, et al.Kidney International|April 21, 2005
Anemia is a new complication in Fabry disease: data from the Fabry Outcome SurveyJulia Kleinert, François Dehout, Andreas Schwarting, et al.American Journal of Hypertension|August 1, 2006
Prevalence of uncontrolled hypertension in patients with Fabry diseaseJulia Kleinert, François Dehout, Andreas Schwarting, et al.Molecular Genetics and Metabolism|April 11, 2025
Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extensionUma Ramaswami, Esperanza Font-Montgomery, Ozlem Goker-Alpan, et al.Circulation. Cardiovascular Imaging|December 13, 2019
Myocardial Storage, Inflammation, and Cardiac Phenotype in Fabry Disease After One Year of Enzyme Replacement TherapySabrina Nordin, Rebecca Kozor, Ravi Vijapurapu, et al.Circulation. Cardiovascular Imaging|July 5, 2019
Quantitative Myocardial Perfusion in Fabry DiseaseKristopher D Knott, Joao B Augusto, Sabrina Nordin, et al.Journal of Neurology|August 13, 2021
Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type CTatiana Bremova-Ertl, Jens Claassen, Tomas Foltan, et al.Pageof 10