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Drug Design, Development and Therapy|May 10, 2011
Update on role of agalsidase alfa in management of Fabry diseaseUma RamaswamiActa Paediatrica (Oslo, Norway : 1992)|May 28, 2008
Fabry disease during childhood: clinical manifestations and treatment with agalsidase alfaUma RamaswamiCurrent Opinion in Pediatrics|August 25, 2020
Management of familial hypercholesterolaemia in childhoodUma Ramaswami, Steve E HumphriesBMJ Case Reports|November 17, 2021
Jaw involvement in Gaucher disease: a not-so-uncommon feature of a rare diseaseSimona D'Amore, Navdeep Kumar, Uma RamaswamiCurrent Issues in Molecular Biology|October 28, 2025
Epigenetic Mechanisms in Fabry Disease: A Thematic Analysis Linking Differential Methylation Profiles and Genetic Modifiers to Disease PhenotypeJatinder Singh, Paramala Santosh, Uma RamaswamiCurrent Atherosclerosis Reports|December 7, 2023
Should Familial Hypercholesterolaemia Be Included in the UK Newborn Whole Genome Sequencing Programme?Steve E Humphries, Uma Ramaswami, Neil HopperArchives of Disease in Childhood|March 8, 2016
The UK Paediatric Familial Hypercholesterolaemia Register: preliminary dataUma Ramaswami, Jackie Cooper, Steve E Humphries, et al.JIMD Reports|April 3, 2013
Early cardiac changes in children with anderson-fabry diseaseStepan Havranek, Ales Linhart, Zuzana Urbanova, et al.Current Opinion in Lipidology|October 4, 2024
Universal screening for familial hypercholesterolaemia: how can we maximise benefits and minimise potential harm for children and their families?Uma Ramaswami, Lorraine Priestley-Barnham, Steve E HumphriesMetabolites|November 26, 2025
Gaucher Disease-Correlation of Lyso-Gb1 with Haematology and Biochemical ParametersSimona D'Amore, Sneha Patel, Juniebel Cooke, et al.Pageof 10