Uma Ramaswami

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 16

Top Topics

Peritoneal Dialysis

Replacement Therapy

Hypertrophic Cardiomyopathy

Top Venues

Orphanet journal of rare diseases

The New England journal of medicine

BMJ case reports

This page only lists publications with an associated author ORCID identifier.

Publications

Simona D'Amore, Mark Mckie, Andrew Fahey, David Bleloch, Giuseppina Grillo, Michael Hughes, Uma Ramaswami
Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease. Orphanet journal of rare diseases 19 (1) (2024)
Simona D'Amore, Mark Mckie, Andrew Fahey, David Bleloch, Giuseppina Grillo, Michael Hughes, Uma Ramaswami
Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease. Orphanet journal of rare diseases 19 (1) (2024)
Tatiana Bremova-Ertl, Uma Ramaswami, Marion M M G Brands, Tomas Foltan, Matthias Gautschi, Paul Gissen, Francesca Gowing, Andreas Hahn, Simon Jones, Richard Kay, Miriam Kolnikova, Laila Arash-Kaps, Thorsten Marquardt, Karl Eugen Mengel, Julien H Park, Stella Reichmannová, Susanne A Schneider, Siyamini Sivananthan, Mark Walterfang, Pierre Wibawa, Michael Leo Strupp, Kyriakos Martakis
Trial of N -Acetyl-l-Leucine in Niemann-Pick Disease Type C. The New England journal of medicine 390 (5) (2024)
Simona D'Amore, Mark Mckie, Andrew Fahey, David Bleloch, Giuseppina Grillo, Michael Hughes, Uma Ramaswami
Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease. Orphanet journal of rare diseases 19 (1) (2024)
Tatiana Bremova-Ertl, Uma Ramaswami, Marion M M G Brands, Tomas Foltan, Matthias Gautschi, Paul Gissen, Francesca Gowing, Andreas Hahn, Simon Jones, Richard Kay, Miriam Kolnikova, Laila Arash-Kaps, Thorsten Marquardt, Karl Eugen Mengel, Julien H Park, Stella Reichmannová, Susanne A Schneider, Siyamini Sivananthan, Mark Walterfang, Pierre Wibawa, Michael Leo Strupp, Kyriakos Martakis
Trial of N -Acetyl-l-Leucine in Niemann-Pick Disease Type C. The New England journal of medicine 390 (5) (2024)
Simona D'Amore, Mark Mckie, Andrew Fahey, David Bleloch, Giuseppina Grillo, Michael Hughes, Uma Ramaswami
Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease. Orphanet journal of rare diseases 19 (1) (2024)
Gerald F Watts, Samuel S Gidding, Robert A Hegele, Frederick J Raal, Amy C Sturm, Laney K Jones, Mitchell N Sarkies, Khalid Al-Rasadi, Dirk Jacobus Blom, Magdalena Daccord, Sarah D de Ferranti, Emanuela Folco, Peter Libby, Pedro Mata, Hapizah M Nawawi, Uma Ramaswami, Kausik K Ray, Claudia Stefanutti, Shizuya Yamashita, Jing Pang, Gilbert R Thompson, Raul Dias Dos Santos Filho
International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia. Nature reviews. Cardiology (2023)
Steve E Humphries, Uma Ramaswami, Neil Hopper
Should Familial Hypercholesterolaemia Be Included in the UK Newborn Whole Genome Sequencing Programme? Current atherosclerosis reports (2023)
Michael Beck, Uma Ramaswami, Elizabeth Hernberg-Ståhl, Derralynn A Hughes, Christoph Kampmann, Atul B Mehta, Kathleen Nicholls, Dau-Ming Niu, Guillem Pintos-Morell, Ricardo Reisin, Michael L West, Jörn Schenk, Christina Anagnostopoulou, Jaco Botha, Roberto Giugliani
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry. Orphanet journal of rare diseases 17 (1) (2022)
Josephine Norre Hogh, Hatim Ebrahim, Shabbir Moochhala, Uma Ramaswami
Early renal failure in childhood in a male with Fabry disease. BMJ case reports 15 (5) (2022)
Simona D'Amore, Hiroshige Sano, Daniel David George Chappell, Davide Chiarugi, Olivia Baker, Kathleen Page, Uma Ramaswami, Fjola Johannesdottir, Timothy M Cox, Patrick Deegan, Kenneth E S Poole, null null, null null
Radiographic Cortical Thickness Index Predicts Fragility Fracture in Gaucher Disease. Radiology (2022)
Simona D'Amore, Hiroshige Sano, Daniel David George Chappell, Davide Chiarugi, Olivia Baker, Kathleen Page, Uma Ramaswami, Fjola Johannesdottir, Timothy M Cox, Patrick Deegan, Kenneth E S Poole, null null, null null
Radiographic Cortical Thickness Index Predicts Fragility Fracture in Gaucher Disease. Radiology (2022)
Sophie Thomas, Uma Ramaswami, Maureen Cleary, Medeah Yaqub, Eva M Raebel
Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature. Journal of clinical medicine 10 (19) (2021)
Uma Ramaswami, Simona D'Amore, Niamh Finnegan, Derralynn Hughes, Masoud Kazemi, null null
Impact of SARS-CoV-2 (COVID-19) pandemic on patients with lysosomal storage disorders and restoration of services: experience from a specialist centre. Internal medicine journal 51 (10) (2021)
Simona D'Amore, Navdeep Kumar, Uma Ramaswami
Jaw involvement in Gaucher disease: a not-so-uncommon feature of a rare disease. BMJ case reports 14 (11) (2021)
Rossella Parini, Guillem Pintos-Morell, Julia B Hennermann, Ting-Rong Hsu, Nesrin Karabul, Vasiliki Kalampoki, Andrey Gurevich, Uma Ramaswami, null null
Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Age. Drug design, development and therapy 14 (2020)