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Molecular Genetics and Metabolism Reports|June 15, 2019
Disease progression of alpha-mannosidosis and impact on patients and carers - A UK natural history surveyJacqueline Adam, Rachel Malone, Sioned Lloyd, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 30, 2009
Monitoring renal function in children with Fabry disease: comparisons of measured and creatinine-based estimated glomerular filtration rateCamilla Tøndel, Uma Ramaswami, Kristin Moberg Aakre, et al.
Orphanet Journal of Rare Diseases|January 11, 2024
Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry diseaseSimona D'Amore, Mark Mckie, Andrew Fahey, et al.
Molecular Genetics and Metabolism Reports|July 5, 2022
Translation of quality of life scale for pediatric patients with Fabry disease in JapanYuta Koto, Yoko Lee, Nozomi Hadano, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 4, 2024
Fabry disease Enzyme Enhancement on migalastat Study: FEESMathura Kugan, Simona D'Amore, Udita Mitra-Royhurst, et al.
Molecular Genetics and Metabolism Reports|November 22, 2017
Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite eventsMichael Beck, Derralynn Hughes, Christoph Kampmann, et al.
The Cochrane Database of Systematic Reviews|December 12, 2023
Enzyme replacement therapy for late-onset Pompe diseaseSanjush Dalmia, Reena Sharma, Uma Ramaswami, et al.
European Journal of Pediatrics|September 25, 2003
The early clinical phenotype of Fabry disease: a study on 35 European children and adolescentsMarkus Ries, Uma Ramaswami, Rossella Parini, et al.
The Cochrane Database of Systematic Reviews|July 8, 2017
Statins for children with familial hypercholesterolemiaAlpo Vuorio, Jaana Kuoppala, Petri T Kovanen, et al.
Journal of the American Heart Association|March 21, 2025
Life Course Approach for Managing Familial HypercholesterolemiaSamuel S Gidding, Dirk J Blom, Brian McCrindle, et al.
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