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Drug Design, Development and Therapy|November 22, 2019
Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) AnalysisUma Ramaswami, Michael Beck, Derralynn Hughes, et al.
Orphanet Journal of Rare Diseases|July 21, 2023
Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panelKarolina M Stepien, Alexander Broomfield, Duncan Cole, et al.
Atherosclerosis|September 29, 2024
Efficacy and safety of statins, ezetimibe and statins-ezetimibe therapies for children and adolescents with heterozygous familial hypercholesterolaemia: Systematic review, pairwise and network meta-analyses of randomised controlled trialsAlexis Llewellyn, Mark Simmonds, David Marshall, et al.
Molecular Genetics and Metabolism|August 11, 2007
Glycogen storage disease type IX: High variability in clinical phenotypeNicholas James Beauchamp, Ann Dalton, Uma Ramaswami, et al.
Radiology|December 20, 2022
Radiographic Cortical Thickness Index Predicts Fragility Fracture in Gaucher DiseaseSimona D'Amore, Hiroshige Sano, Daniel David George Chappell, et al.
Health and Quality of Life Outcomes|September 21, 2012
Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)Uma Ramaswami, Donald E Stull, Rossella Parini, et al.
Orphanet Journal of Rare Diseases|July 2, 2025
Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome SurveyJoseph Muenzer, Hernan Amartino, Roberto Giugliani, et al.
Frontiers in Pediatrics|September 30, 2024
Transition of patients with Gaucher disease type 1 from pediatric to adult care: results from two international surveys of patients and health care professionalsKarolina M Stepien, Irena Žnidar, Beata Kieć-Wilk, et al.
Orphanet Journal of Rare Diseases|March 29, 2025
Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome SurveysShoshana Revel-Vilk, Uma Ramaswami, Guillem Pintos-Morell, et al.
Human Mutation|May 28, 2009
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidaseDoris Hofer, Karl Paul, Katrin Fantur, et al.
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