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Orphanet Journal of Rare Diseases|June 20, 2022
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registryMichael Beck, Uma Ramaswami, Elizabeth Hernberg-Ståhl, et al.
JACC. Cardiovascular Imaging|May 21, 2018
Proposed Stages of Myocardial Phenotype Development in Fabry DiseaseSabrina Nordin, Rebecca Kozor, Katia Medina-Menacho, et al.
Neurology|June 13, 2025
Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type CMarc C Patterson, Uma Ramaswami, Aimee Donald, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|August 24, 2014
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometryChristiane Auray-Blais, Catherine-Marie Blais, Uma Ramaswami, et al.
Circulation. Cardiovascular Imaging|June 2, 2018
Cardiac Phenotype of Prehypertrophic Fabry DiseaseSabrina Nordin, Rebecca Kozor, Shanat Baig, et al.
European Journal of Medical Genetics|June 12, 2013
New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutationsMónica Ramos, Sebastián Menao, María Arnedo, et al.
JIMD Reports|September 17, 2014
Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-upL van der Tol, David Cassiman, Gunnar Houge, et al.
Atherosclerosis|December 7, 2019
Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countriesUma Ramaswami, Marta Futema, Martin P Bogsrud, et al.
Circulation. Cardiovascular Imaging|March 3, 2020
Myocardial Edema, Myocyte Injury, and Disease Severity in Fabry DiseaseJoão B Augusto, Sabrina Nordin, Ravi Vijapurapu, et al.
Frontiers in Molecular Biosciences|April 27, 2026
Sex-based antibody subclass maturation drives direct enzymatic inhibition in fabry disease patients receiving enzyme replacement therapyTomas Baldwin, Hibba Kurdi, Ivan Doykov, et al.
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