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Resultats globals: 4 registres trobats en 0.02 segons.
Articles, 4 registres trobats
Articles 4 registres trobats  
1.
9 p, 745.9 KB Long-term follow-up of renal function in patients treated with migalastat for Fabry disease / Bichet, Daniel G. (Department of Medicine, Hôpital du Sacré-Coeur, University of Montréal, Montreal, Quebec, Canada) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Wallace, Eric (Department of Medicine, University of Alabama, Birmingham, AL, USA) ; Hughes, Derralynn A (Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust and University College London, London, UK) ; Giugliani, Roberto (Instituto Nacional de Genética Médica Populacional (Porto Alegre, Brasil)) ; Skuban, Nina (Amicus Therapeutics, Inc., Cranbury, NJ, USA) ; Krusinska, Eva (Amicus Therapeutics, Inc., Cranbury, NJ, USA) ; Feldt-Rasmussen, Ulla (Copenhagen University Hospital Rigshospitalet) ; Schiffmann, Raphael (Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX, USA) ; Nicholls, Kathy (Royal Melbourne Hospital (Melbourne, Austràlia)) ; Universitat Autònoma de Barcelona
The effect of migalastat on long-term renal outcomes in enzyme replacement therapy (ERT)-naive and ERT-experienced patients with Fabry disease is not well defined. An integrated posthoc analysis of the phase 3 clinical trials and open-label extension studies was conducted to evaluate long-term changes in renal function in patients with Fabry disease and amenable GLA variants who were treated with migalastat for ≥2 years during these studies. [...]
2021 - 10.1016/j.ymgmr.2021.100786
Molecular Genetics and Metabolism Reports, Vol. 28 (august 2021)  
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2.
5 p, 246.4 KB Long-term outcomes with agalsidase alfa enzyme replacement therapy : analysis using deconstructed composite events / Beck, Michael (University Medical Center, Mainz, Germany) ; Hughes, Derralynn A (University College London) ; Kampmann, Christoph (University Medical Center, Mainz, Germany) ; Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Ramaswami, Uma (University College London) ; West, Michael L. (Dalhousie University, Halifax, Canada) ; Giugliani, Roberto (Universidade Federal do Rio Grande do Sul, Brazil) ; Universitat Autònoma de Barcelona
This is a retrospective analysis of Fabry Outcome Survey data from children/adults (n = 677) receiving agalsidase alfa enzyme replacement therapy for a median of 3 years, examining cerebrovascular, cardiac, and renal morbidity endpoints separately. [...]
2017 - 10.1016/j.ymgmr.2017.10.008
Molecular Genetics and Metabolism Reports, Vol. 14 (november 2017) , p. 31-35  
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3.
7 p, 412.7 KB Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease : A Fabry Outcome Survey analysis / Beck, Michael (University Medical Center, University of Mainz, Department of Paediatrics) ; Hughes, Derralynn A (Royal Free London NHS Foundation Trust, University College of London) ; Kampmann, Christoph (University Medical Center, University of Mainz, Department of Paediatrics) ; Larroque, Sylvain (Shire, Zug) ; Mehta, Atul (Royal Free London NHS Foundation Trust, University College of London) ; Pintos-Morellell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Ramaswami, Uma (Royal Free London NHS Foundation Trust, University College of London) ; West, Michael (Department of Medicine, Dalhousie University) ; Wijatyk, Anna (Shire) ; Giugliani, Roberto (Medical Genetics Service HCPA/Dep Genet UFRGS and INAGEMP, Porto Alegre) ; Universitat Autònoma de Barcelona
Outcomes from 5 years of treatment with agalsidase alfa enzyme replacement therapy (ERT) for Fabry disease in patients enrolled in the Fabry Outcome Survey (FOS) were compared with published findings for untreated patients with Fabry disease. [...]
2015 - 10.1016/j.ymgmr.2015.02.002
Molecular Genetics and Metabolism Reports, Vol. 3 (march 2015) , p. 21-27  
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4.
10 p, 749.0 KB Characterization of individuals at high risk of developing melanoma in Latin America : bases for genetic counseling in melanoma / Puig, Susana (Universitat de Barcelona. Departament de Medicina) ; Potrony, Miriam (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Cuellar, Francisco (Consejo Nacional de Ciencia y Tecnología (CONACYT)) ; Puig-Butille, Joan Anton (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Carrera, Cristina (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Aguilera, Paula (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Nagore, Eduardo (Universidad Católica de Valencia) ; Garcia-Casado, Zaida (Instituto Valenciano Oncologia) ; Requena, Celia (Fundació Institut Valencià d'Oncologia) ; Kumar, Rajiv (Division of Molecular Genetic Epidemiology, German Cancer Research Center) ; Landman, Gilles (International Research Center, AC Camargo Cancer Center) ; Costa Soares de Sá, Bianca (International Research Center, AC Camargo Cancer Center) ; Gargantini Rezze, Gisele (International Research Center, AC Camargo Cancer Center) ; Facure, Luciana (International Research Center, AC Camargo Cancer Center) ; de Avila, Alexandre Leon Ribeiro (International Research Center, AC Camargo Cancer Center) ; Achatz, Maria Isabel (International Research Center, AC Camargo Cancer Center) ; Carraro, Dirce Maria (International Research Center, AC Camargo Cancer Center) ; Duprat Neto, João Pedreira (International Research Center, AC Camargo Cancer Center) ; Grazziotin, Thais C. (Dermatology Department and Post-Graduation Program of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA)) ; Bonamigo, Renan R. (Dermatology Department and Post-Graduation Program of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA)) ; Rey, Maria Carolina W. (Dermatology Department and Post-Graduation Program of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA)) ; Balestrini, Claudia (Servicio de Dermatología, Hospital Dr. Sótero del Río) ; Morales, Enrique (Servicio de Dermatología, Hospital San Juan de Dios) ; Molgo, Montserrat (Pontificia Universidad Católica de Chile) ; Bakos, Renato Marchiori (Hospital de Clínicas de Porto Alegre (Brasil)) ; Ashton-Prolla, Patricia (Hospital de Clínicas de Porto Alegre (Brasil)) ; Giugliani, Roberto (Hospital de Clínicas de Porto Alegre (Brasil)) ; Larre Borges, Alejandra (Universidad de la República (Montevideo, Uruguai)) ; Barquet, Virginia (Universidad de la República (Montevideo, Uruguai)) ; Pérez, Javiera (Universidad de la República (Montevideo, Uruguai)) ; Martínez, Miguel (Universidad de la República (Montevideo, Uruguai)) ; Cabo, Horacio (Consultorio Dermatológico Drs. Cohen Sabban y Cabo) ; Cohen Sabban, Emilia (Consultorio Dermatológico Drs. Cohen Sabban y Cabo) ; Latorre, Clara (Consultorio Dermatológico Drs. Cohen Sabban y Cabo) ; Carlos-Ortega, Blanca (Hospital Especialidades Centro Medico Nacional La Raza) ; Salas-Alanis, Julio C.. (Departamento de Ciencias Básicas, Escuela de Medicina Universidad de Monterrey) ; Gonzalez, Roger (Hospital Universitario. Dr. José Eleuterio González (Monterrey, Mèxic)) ; Olazaran, Zulema (Hospital Universitario. Dr. José Eleuterio González (Monterrey, Mèxic)) ; Malvehy, Josep (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Badenas, Celia (Institut d'Investigacions Biomèdiques August Pi i Sunyer)
CDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America. [...]
2015 - 10.1038/gim.2015.160
Genetics in medicine, Vol. 18 (december 2015) , p. 727-736  
Registre complet - Creative Commons

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1 Giugliani, R.
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