Hasil Pencarian - Uma Ramaswami

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  1. 1
    Update on role of agalsidase alfa in management of Fabry disease

    Update on role of agalsidase alfa in management of Fabry disease oleh Uma Ramaswami

    Diterbitkan 2011-03-01
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  2. 2
    Editorial: Genetics of familial hypercholesterolemia: New insight—Volume II

    Editorial: Genetics of familial hypercholesterolemia: New insight—Volume II oleh Alpo Vuorio, Alpo Vuorio, Uma Ramaswami, Uma Ramaswami, Kirsten B. Holven, Kirsten B. Holven

    Diterbitkan 2022-10-01
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  3. 3
    Editorial: Genetics of Familial Hypercholesterolemia: New Insight

    Editorial: Genetics of Familial Hypercholesterolemia: New Insight oleh Alpo Vuorio, Alpo Vuorio, Uma Ramaswami, Uma Ramaswami, Kirsten B. Holven, Kirsten B. Holven

    Diterbitkan 2021-05-01
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  4. 4
    Fabry disease and incidence of cancer

    Fabry disease and incidence of cancer oleh Sarah Bird, Efthymios Hadjimichael, Atul Mehta, Uma Ramaswami, Derralynn Hughes

    Diterbitkan 2017-09-01
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  5. 5
    Disease progression of alpha-mannosidosis and impact on patients and carers – A UK natural history survey

    Disease progression of alpha-mannosidosis and impact on patients and carers – A UK natural history survey oleh Jacqueline Adam, Rachel Malone, Sioned Lloyd, Jennifer Lee, Christian J. Hendriksz, Uma Ramaswami

    Diterbitkan 2019-09-01
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  6. 6
    Translation of quality of life scale for pediatric patients with Fabry disease in Japan

    Translation of quality of life scale for pediatric patients with Fabry disease in Japan oleh Yuta Koto, Yoko Lee, Nozomi Hadano, Wakana Yamashita, Chikara Kokubu, Uma Ramaswami, Norio Sakai

    Diterbitkan 2022-06-01
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  7. 7
    Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease

    Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease oleh Simona D’Amore, Mark Mckie, Andrew Fahey, David Bleloch, Giuseppina Grillo, Michael Hughes, Uma Ramaswami

    Diterbitkan 2024-01-01
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  8. 8
    Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events

    Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events oleh Michael Beck, Derralynn Hughes, Christoph Kampmann, Guillem Pintos-Morell, Uma Ramaswami, Michael L. West, Roberto Giugliani

    Diterbitkan 2018-03-01
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  9. 9
    A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide

    A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide oleh Atul Mehta, Uma Ramaswami, Joseph Muenzer, Roberto Giugliani, Kurt Ullrich, Tanya Collin-Histed, Zoya Panahloo, Hartmann Wellhoefer, Joel Frader

    Diterbitkan 2021-01-01
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  10. 10
    Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

    Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis oleh Michael Beck, Derralynn Hughes, Christoph Kampmann, Sylvain Larroque, Atul Mehta, Guillem Pintos-Morell, Uma Ramaswami, Michael West, Anna Wijatyk, Roberto Giugliani

    Diterbitkan 2015-06-01
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  11. 11
    Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel

    Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel oleh Karolina M. Stepien, Alexander Broomfield, Duncan Cole, Patrick B. Deegan, Stuart Forshaw-Hulme, Derralynn Hughes, Ana Jovanovic, Liz Morris, Alison Muir, Uma Ramaswami

    Diterbitkan 2023-07-01
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  12. 12
    Transition of patients with Gaucher disease type 1 from pediatric to adult care: results from two international surveys of patients and health care professionals

    Transition of patients with Gaucher disease type 1 from pediatric to adult care: results from two international surveys of patients and health care professionals oleh Karolina M. Stepien, Irena Žnidar, Beata Kieć-Wilk, Beata Kieć-Wilk, Angel Jones, Daniela Castillo-García, Magy Abdelwahab, Shoshana Revel-Vilk, Shoshana Revel-Vilk, Ella Lineham, Derralynn Hughes, Uma Ramaswami, Tanya Collin-Histed

    Diterbitkan 2024-08-01
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  13. 13
    Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry

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

    Diterbitkan 2022-06-01
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  14. 14
    A 15-Year Perspective of the Fabry Outcome Survey

    A 15-Year Perspective of the Fabry Outcome Survey oleh 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

    Diterbitkan 2016-09-01
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  15. 15
    Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

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

    Diterbitkan 2015-01-01
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  16. 16
    Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

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

    Diterbitkan 2020-11-01
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  17. 17
    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 Delphi consensus initiative

    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... oleh 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

    Diterbitkan 2020-10-01
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  18. 18
    Consensus clinical management guidelines for Niemann-Pick disease type C

    Consensus clinical management guidelines for Niemann-Pick disease type C oleh 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)

    Diterbitkan 2018-04-01
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