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Acta Paediatrica (Oslo, Norway : 1992)|February 28, 2006
Clinical manifestations of Fabry disease in children: data from the Fabry Outcome SurveyUma Ramaswami, Catharina Whybra, Rosella Parini, et al.
The Cochrane Database of Systematic Reviews|November 8, 2019
Statins for children with familial hypercholesterolemiaAlpo Vuorio, Jaana Kuoppala, Petri T Kovanen, et al.
BMC Ophthalmology|November 18, 2016
Paediatric Fabry disease: prognostic significance of ocular changes for disease severityGisela Kalkum, Susanne Pitz, Nesrin Karabul, et al.
Orphanet Journal of Rare Diseases|January 7, 2021
A charitable access program for patients with lysosomal storage disorders in underserved communities worldwideAtul Mehta, Uma Ramaswami, Joseph Muenzer, et al.
Drug Design, Development and Therapy|June 26, 2020
Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of AgeRossella Parini, Guillem Pintos-Morell, Julia B Hennermann, et al.
European Journal of Neurology|November 7, 2025
Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single-Centre CohortDavid Moreno-Martinez, Sara Lucas-Del-Pozo, Lucia Lavalle, et al.
Molecular Genetics and Metabolism|May 6, 2025
The use and performance of lyso-Gb3 for the diagnosis and monitoring of Fabry disease: A systematic literature reviewUma Ramaswami, Michael L West, Karen Tylee, et al.
Metabolites|November 26, 2024
Changes in Angiogenesis and Bone Turnover Markers in Patients with Gaucher Disease Developing OsteonecrosisSimona D'Amore, Kenneth Eric Poole, Uma Ramaswami, et al.
Molecular Genetics and Metabolism Reports|March 4, 2016
Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysisMichael Beck, Derralynn Hughes, Christoph Kampmann, et al.
Atherosclerosis|September 20, 2019
Current management of children and young people with heterozygous familial hypercholesterolaemia - HEART UK statement of careUma Ramaswami, Steve E Humphries, Lorraine Priestley-Barnham, et al.
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