Update on role of agalsidase alfa in management of Fabry disease

by Uma Ramaswami
Published 2011-03-01

Editorial: Genetics of familial hypercholesterolemia: New insight—Volume II

by Alpo Vuorio, Alpo Vuorio, Uma Ramaswami, Uma Ramaswami, Kirsten B. Holven, Kirsten B. Holven
Published 2022-10-01

Editorial: Genetics of Familial Hypercholesterolemia: New Insight

by Alpo Vuorio, Alpo Vuorio, Uma Ramaswami, Uma Ramaswami, Kirsten B. Holven, Kirsten B. Holven
Published 2021-05-01

Fabry disease and incidence of cancer

by Sarah Bird, Efthymios Hadjimichael, Atul Mehta, Uma Ramaswami, Derralynn Hughes
Published 2017-09-01

Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature

by Sophie Thomas, Uma Ramaswami, Maureen Cleary, Medeah Yaqub, Eva M. Raebel
Published 2021-09-01

Disease progression of alpha-mannosidosis and impact on patients and carers – A UK natural history survey

by Jacqueline Adam, Rachel Malone, Sioned Lloyd, Jennifer Lee, Christian J. Hendriksz, Uma Ramaswami
Published 2019-09-01

Translation of quality of life scale for pediatric patients with Fabry disease in Japan

by Yuta Koto, Yoko Lee, Nozomi Hadano, Wakana Yamashita, Chikara Kokubu, Uma Ramaswami, Norio Sakai
Published 2022-06-01

Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease

by Simona D’Amore, Mark Mckie, Andrew Fahey, David Bleloch, Giuseppina Grillo, Michael Hughes, Uma Ramaswami
Published 2024-01-01

Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events

by Michael Beck, Derralynn Hughes, Christoph Kampmann, Guillem Pintos-Morell, Uma Ramaswami, Michael L. West, Roberto Giugliani
Published 2018-03-01

A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide

by Atul Mehta, Uma Ramaswami, Joseph Muenzer, Roberto Giugliani, Kurt Ullrich, Tanya Collin-Histed, Zoya Panahloo, Hartmann Wellhoefer, Joel Frader
Published 2021-01-01

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

by Michael Beck, Derralynn Hughes, Christoph Kampmann, Sylvain Larroque, Atul Mehta, Guillem Pintos-Morell, Uma Ramaswami, Michael West, Anna Wijatyk, Roberto Giugliani
Published 2015-06-01

Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel

by Karolina M. Stepien, Alexander Broomfield, Duncan Cole, Patrick B. Deegan, Stuart Forshaw-Hulme, Derralynn Hughes, Ana Jovanovic, Liz Morris, Alison Muir, Uma Ramaswami
Published 2023-07-01

Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry

by 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
Published 2022-06-01

A 15-Year Perspective of the Fabry Outcome Survey

by Roberto Giugliani MD, PhD, Dau-Ming Niu MD, PhD, Uma Ramaswami MD, Michael West MD, Derralynn Hughes MD, Christoph Kampmann MD, PhD, Guillem Pintos-Morell MD, PhD, Kathleen Nicholls MD, Jörn-Magnus Schenk MD, PhD, Michael Beck MD
Published 2016-09-01

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

by Frits A Wijburg, Bernard Bénichou, Daniel G Bichet, Lorne A Clarke, Gabriela Dostalova, Alejandro Fainboim, Andreas Fellgiebel, Cassiano Forcelini, Kristina An Haack, Robert J Hopkin, Michael Mauer, Behzad Najafian, C Ronald Scott, Suma P Shankar, Beth L Thurberg, Camilla Tøndel, Anna Tylki-Szymańska, Uma Ramaswami
Published 2015-01-01

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

by Sheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, Hisham Ahamed, Ratna Dua Puri, Neerja Gupta, Madhulika Kabra, Prajnya Ranganath, Meenakshi Bhat, Shubha Phadke, Akella Radha Rama Devi, Sujatha Jagadeesh, Sumita Danda, Padmavathy Narayana Sylaja, Kausik Mandal, Sunita Bijarnia‐Mahay, Ravinder Makkar, Ishwar Chander Verma, Ashwin Dalal, Uma Ramaswami
Published 2020-11-01

Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified D...

by Derralynn A Hughes, Raphael Schiffmann, Ales Linhart, Patricio Aguiar, Patrick B Deegan, Fatih Ezgu, Andrea Frustaci, Olivier Lidove, Jean-Claude Lubanda, Kathleen Nicholls, Dau-Ming Niu, Uma Ramaswami, Ricardo Reisin, Paula Rozenfeld, Einar Svarstad, Roser Torra, Bojan Vujkovac, Michael L West, Jack Johnson, Mark J Rolfe
Published 2020-10-01

Consensus clinical management guidelines for Niemann-Pick disease type C

by Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J. Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A. Jones, Daniel Ory, Bruno Bembi, Marc Patterson, on behalf of the International Niemann-Pick Disease Registry (INPDR)
Published 2018-04-01