Uma Ramaswami

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 88 publications

Familial hypercholesterolaemia in children and adolescents: a European Atherosclerosis Society consensus statement.

Familial hypercholesterolaemia in children and adolescents: a European Atherosclerosis Society consensus statement.

Journal: European heart journal

Published: May 25, 2026

Cardiovascular Morbidity and Mortality in Fabry Disease.

Cardiovascular Morbidity and Mortality in Fabry Disease.

Journal: Circulation. Genomic and precision medicine

Published: February 06, 2026

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

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

Journal: Journal of inherited metabolic disease

Published: October 31, 2025

Sex-based antibody subclass maturation drives direct enzymatic inhibition in fabry disease patients receiving enzyme replacement therapy.

Sex-based antibody subclass maturation drives direct enzymatic inhibition in fabry disease patients receiving enzyme replacement therapy.

Journal: Frontiers in molecular biosciences

Published: October 16, 2025

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

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

Journal: Current issues in molecular biology

Published: September 13, 2025

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

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

Journal: Metabolites

Published: August 30, 2025

Long-term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey.

Long-term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey.

Journal: European journal of clinical investigation

Published: June 26, 2025

Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C.

Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C.

Journal: Neurology

Published: June 13, 2025

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

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

Journal: European journal of neurology

Published: June 05, 2025

Life Course Approach for Managing Familial Hypercholesterolemia.

Life Course Approach for Managing Familial Hypercholesterolemia.

Journal: Journal of the American Heart Association

Published: March 21, 2025

The use and performance of lyso-Gb3 for the diagnosis and monitoring of Fabry disease: A systematic literature review.

The use and performance of lyso-Gb3 for the diagnosis and monitoring of Fabry disease: A systematic literature review.

Journal: Molecular genetics and metabolism

Published: March 05, 2025

Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy.

Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy.

Journal: Molecular genetics and metabolism reports

Published: January 22, 2025

Showing 1-12 of 88

Last Updated: 09/26/2026