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American Journal of Hematology|February 19, 2021
Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life dataMajdolen Istaiti, Shoshana Revel-Vilk, Michal Becker-Cohen, et al.Plos One|May 9, 2015
Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trialFrits A Wijburg, Bernard Bénichou, Daniel G Bichet, et al.Atherosclerosis|November 15, 2016
HEART UK statement on the management of homozygous familial hypercholesterolaemia in the United KingdomMichael France, Alan Rees, Dev Datta, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2010
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndromeJoseph Muenzer, Michael Beck, Christine M Eng, et al.Journal of Inherited Metabolic Disease|April 4, 2020
The definition of neuronopathic Gaucher diseaseRaphael Schiffmann, Jeff Sevigny, Arndt Rolfs, et al.Circulation. Genomic and Precision Medicine|February 6, 2026
Cardiovascular Morbidity and Mortality in Fabry DiseaseEmanuele Monda, Athanasios Bakalakos, Annamaria Del Franco, et al.JIMD Reports|November 18, 2020
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patientsSheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, et al.Molecular Genetics and Metabolism|April 17, 2019
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trialUma Ramaswami, Daniel G Bichet, Lorne A Clarke, et al.Atherosclerosis|January 28, 2021
Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countriesMarta Futema, Uma Ramaswami, Lukas Tichy, et al.Journal of Neurology|September 3, 2024
Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disordersJulien Park, Tatiana Bremova-Ertl, Marion Brands, et al.Pageof 10