Canlyniadau Chwilio - Guillem Pintos‐Morell

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  1. 1
    Fabry disease in children and the effects of enzyme replacement treatment

    Fabry disease in children and the effects of enzyme replacement treatment gan Guillem Pintos‐Morell, Michael Beck

    Cyhoeddwyd 2009
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  2. 2
    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 gan Michael Beck, Derralynn Hughes, Christoph Kampmann, Guillem Pintos‐Morell, Uma Ramaswami, Michael L. West, Roberto Giugliani

    Cyhoeddwyd 2017
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  3. 3
    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 gan Michael Beck, Derralynn Hughes, Christoph Kampmann, Svetlana Bizjajeva, Guillem Pintos‐Morell, Uma Ramaswami, Michael E. West, Roberto Giugliani

    Cyhoeddwyd 2016
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  4. 4
    <p>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</p>

    <p>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 Ag... gan Rossella Parini, Guillem Pintos‐Morell, Julia B. Hennermann, Ting‐Rong Hsu, Nesrin Karabul, Vasiliki Kalampoki, Andrey Gurevich, Uma Ramaswami

    Cyhoeddwyd 2020
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  5. 5
    Extracellular Vesicles as Tools for Crossing the Blood–Brain Barrier to Treat Lysosomal Storage Diseases

    Extracellular Vesicles as Tools for Crossing the Blood–Brain Barrier to Treat Lysosomal Storage Diseases gan Giovanni Lerussi, Verónica Villagrasa-Araya, Marc Moltó‐Abad, Mireia del Toro, Guillem Pintos‐Morell, Joaquin Seras‐Franzoso, Ibane Abasolo

    Cyhoeddwyd 2025
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  6. 6
    Impact of Measures to Enhance the Value of Observational Surveys in Rare Diseases: The Fabry Outcome Survey (FOS)

    Impact of Measures to Enhance the Value of Observational Surveys in Rare Diseases: The Fabry Outcome Survey (FOS) gan Joe T.R. Clarke, Roberto Giugliani, Gere Sunder‐Plassmann, Perry Elliott, Guillem Pintos‐Morell, Elizabeth Hernberg‐Ståhl, Maria Malmenäs, Michael Beck

    Cyhoeddwyd 2011
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  7. 7
    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 gan Michael Beck, Derralynn Hughes, Christoph Kampmann, Sylvain Larroque, Atul Mehta, Guillem Pintos‐Morell, Uma Ramaswami, Michael L. West, Anna Wijatyk, Roberto Giugliani

    Cyhoeddwyd 2015
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  8. 8
    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 gan Michael Beck, Derralynn Hughes, Christoph Kampmann, Sylvain Larroque, Atul Mehta, Guillem Pintos‐Morell, Uma Ramaswami, Michael L. West, Anna Wijatyk, Roberto Giugliani

    Cyhoeddwyd 2015
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  9. 9
    <p>Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis</p>

    <p>Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis</p> gan Uma Ramaswami, Michael Beck, Derralynn Hughes, Christoph Kampmann, Jaco Botha, Guillem Pintos‐Morell, Michael L. West, Dau‐Ming Niu, Kathy Nicholls, Roberto Giugliani

    Cyhoeddwyd 2019
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  10. 10
    A 15-Year Perspective of the Fabry Outcome Survey

    A 15-Year Perspective of the Fabry Outcome Survey gan Roberto Giugliani, Dau‐Ming Niu, Uma Ramaswami, Michael L. West, Derralynn Hughes, Christoph Kampmann, Guillem Pintos‐Morell, Kathy Nicholls, Jörn-Magnus Schenk, Michael Beck

    Cyhoeddwyd 2016
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  11. 11
    Recommendations for the management of tyrosinaemia type 1

    Recommendations for the management of tyrosinaemia type 1 gan Corinne De Laet, Carlo Dionisi‐Vici, James V. Leonard, Patrick McKiernan, Grant A. Mitchell, Lidia Monti, Hélène Ogier de Baulny, Guillem Pintos‐Morell, Ute Spiekerkötter

    Cyhoeddwyd 2013
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  12. 12
    Effects of enzyme replacement therapy in Fabry disease—A comprehensive review of the medical literature

    Effects of enzyme replacement therapy in Fabry disease—A comprehensive review of the medical literature gan Olivier Lidove, Michael L. West, Guillem Pintos‐Morell, Ricardo Reisin, Kathy Nicholls, Luis E. Figuera, Rossella Parini, Luiz Roberto Carvalho, Christoph Kampmann, Gregory M. Pastores, Atul Mehta

    Cyhoeddwyd 2010
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  13. 13
    Therapeutic goals in the treatment of Fabry disease

    Therapeutic goals in the treatment of Fabry disease gan Atul Mehta, Michael L. West, Guillem Pintos‐Morell, Ricardo Reisin, Kathy Nicholls, Luis E. Figuera, Rossella Parini, Luiz Roberto Carvalho, Christoph Kampmann, Gregory M. Pastores, Olivier Lidove

    Cyhoeddwyd 2010
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  14. 14
    Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys

    Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys gan Shoshana Revel‐Vilk, Uma Ramaswami, Guillem Pintos‐Morell, Derralynn Hughes, Kathy Nicholls, Ricardo Reisin, Roberto Giugliani, Özlem Göker-Alpan, Majdolen Istaiti, Aidan Gill, Maurizio Scarpa, Jaco Botha

    Cyhoeddwyd 2025
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  15. 15
    Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee

    Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee gan David R. Adams, Clara D. van Karnebeek, Sergi Beltrán, Víctor Faúndes, Saumya Shekhar Jamuar, Sally Ann Lynch, Guillem Pintos‐Morell, Ratna Dua Puri, Ruty Mehrian‐Shai, Charles A. Steward, Birutė Tumienė, Alain Verloès

    Cyhoeddwyd 2024
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  16. 16
    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 gan Michael Beck, Uma Ramaswami, Elizabeth Hernberg‐Ståhl, Derralynn Hughes, Christoph Kampmann, Atul Mehta, Kathy Nicholls, Dau‐Ming Niu, Guillem Pintos‐Morell, Ricardo Reisin, Michael L. West, Jörn Schenk, Christina Anagnostopoulou, Jaco Botha, Roberto Giugliani

    Cyhoeddwyd 2022
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  17. 17
    Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

    Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome gan Alejandro García‐Castaño, Gustavo Pérez de Nanclares, Leire Madariaga, Mireia Aguirre, A. Madrid, Sara Chocrón, Inmaculada Nadal, Mercedes Navarro, Elena Lucas, Julia Fijo, M. Espino Hernández, Zilac Espitaletta, Víctor Manuel García Nieto, David Barajas de Frutos, Reyner Loza Munárriz, Guillem Pintos‐Morell, Luís Castaño, Gema Ariceta

    Cyhoeddwyd 2017
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  18. 18
    Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update

    Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update gan Alfredo Santalla, Gisela Nogales‐Gadea, Alberto Blázquez, Irene Viéitez, Adrián González-Quintana, Pablo Serrano‐Lorenzo, Inés García Consuegra, Sara Marcos Asensio, Alfonsina Ballester‐Lopez, Guillem Pintos‐Morell, J Coll, Helios Pareja‐Galeano, Jorge Díez‐Bermejo, Margarita Pérez, Antoni L. Andreu, Tomàs Pinós, Joaquı́n Arenas, Miguel A. Martı́n, Alejandro Lucía

    Cyhoeddwyd 2017
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  19. 19
    Extracellular vesicles from recombinant cell factories improve the activity and efficacy of enzymes defective in lysosomal storage disorders

    Extracellular vesicles from recombinant cell factories improve the activity and efficacy of enzymes defective in lysosomal storage disorders gan Joaquin Seras‐Franzoso, Zamira V. Díaz‐Riascos, José Luís Corchero, Patricia González, Natalia García‐Aranda, Mònica Mandaña, Roger Riera, Ana Boullosa, Sandra Mancilla, Alba Grayston, Marc Moltó‐Abad, Elena García‐Fruitós, Rosa Mendoza, Guillem Pintos‐Morell, Lorenzo Albertazzi, Anna Rosell, Josefina Casas, Antonio Villaverde, Simó Schwartz, Ibane Abasolo

    Cyhoeddwyd 2021
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  20. 20
    Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis

    Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis gan Sheila Santín, Rafael García‐Maset, Patricia Ruíz, Isabel Giménez, I. Zamora, Antonia Peña, A. Madrid, Juan Antonio Camacho, Gloria Fraga, Ana Sánchez‐Moreno, María Ángeles Cobo, Carmen Bernis, Alberto Ortíz, Augusto Luque de Pablos, Guillem Pintos‐Morell, Maria Luisa Justa, Emilia Hidalgo-Barquero, Patricia Fernández‐Llama, José Ballarín, Elisabet Ars, Roser Torrá, on behalf of the FSGS Spanish Study Group

    Cyhoeddwyd 2009
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