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Uma Ramaswami

19PUBLICATIONS

77CO-AUTHORS

Neurology and neuromuscular diseasesCardiology (incl. cardiovascular diseases)Medical biochemistry - carbohydratesEpigenetics (incl. genome methylation and epigenomics)Glycobiology

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Publications (19)

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|Apr 26, 2026

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.

|Feb 06, 2026

Cardiovascular Morbidity and Mortality in Fabry Disease.

Emanuele Monda, Athanasios Bakalakos, Annamaria Del Franco

|Nov 26, 2025

Gaucher Disease-Correlation of Lyso-Gb1 with Haematology and Biochemical Parameters.

Simona D'Amore, Sneha Patel, Juniebel Cooke

|Nov 07, 2025

Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single-Centre Cohort.

David Moreno-Martinez, Sara Lucas-Del-Pozo, Lucia Lavalle

|Oct 28, 2025

Epigenetic Mechanisms in Fabry Disease: A Thematic Analysis Linking Differential Methylation Profiles and Genetic Modifiers to Disease Phenotype.

Jatinder Singh, Paramala Santosh, Uma Ramaswami

|Mar 29, 2025

Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys.

Shoshana Revel-Vilk, Uma Ramaswami, Guillem Pintos-Morell

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Frequent Collaborators

4 joint publications

Simona D'Amore

3 joint publications

Derralynn Hughes

2 joint publications

Guillem Pintos-Morell

2 joint publications

Raul D Santos

2 joint publications

Dirk J Blom

2 joint publications

Gerald F Watts

2 joint publications

Patrick Deegan

2 joint publications

Timothy Martin Cox

1 joint publications

Rossella Parini

1 joint publications

Eva M Raebel

Frequent Collaborators

4 joint publications

Simona D'Amore

3 joint publications

Derralynn Hughes

2 joint publications

Guillem Pintos-Morell

2 joint publications

Raul D Santos

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