Resultats globals: 6 registres trobats en 0.03 segons.
Articles, 6 registres trobats
Articles 6 registres trobats  
1.
19 p, 2.8 MB Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat : a modified Delphi study / Bichet, Daniel G. (University of Montréal, Canada) ; Hopkin, Robert J. (University of Cincinnati College of Medicine, United States) ; Aguiar, Patrício (Lisbon University) ; Allam, Sridhar R. (Texas Christian University, Fort Worth, United States) ; Chien, Yin-Hsiu (National Taiwan University College of Medicine, Taipei, Taiwan) ; Giugliani, Roberto (Postgraduate Program in Genetics and Molecular Biology (PPGBM) at Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Brazil) ; Kallish, Staci (University of Pennsylvania, Philadelphia, United States) ; Kineen, Sabina (Patient Advocate, United States) ; Lidove, Olivier (French Network of Inherited Metabolic Disorders (G2m), France) ; Niu, Dau-Ming (National Yang Ming Chiao Tung University, Taipei, Taiwan) ; Olivotto, Iacopo (Meyer University Children's Hospital, Florence, Italy) ; Politei, Juan (Fundacion Para el Estudio de Enfermedades Neurometabolicas (FESEN), Buenos Aires, Argentina) ; Rakoski, Paul (Patient Advocate, United States) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Tøndel, Camilla (University of Bergen, Norway) ; Hughes, Derralynn A. (Royal Free London NHS Foundation Trust and University College London, United Kingdom) ; Universitat Autònoma de Barcelona. Departament de Medicina
Fabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with heterogenous clinical presentation. The addition of the oral chaperone therapy migalastat to the available treatment options for Fabry disease is not yet universally reflected in all treatment guidelines. [...]
2023 - 10.3389/fmed.2023.1220637
Frontiers in Medicine, Vol. 10 (september 2023)  
2.
15 p, 1.1 MB Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease? / Hughes, Derralynn A. (University College London) ; Aguiar, Patrício (Lisbon University) ; Lidove, Olivier (Croix Saint Simon Hospital, Paris) ; Nicholls, Kathleen (University of Melbourne) ; Nowak, Albina (University Hospital Zurich (Suïssa)) ; Thomas, Mark (Cincinnati Children's Hospital Medical Center (CCHMC). Center for Fetal and Placental Research) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Vujkovac, Bojan (General Hospital Slovenj Gradec) ; West, Michael L. (Dalhousie University) ; Feriozzi, Sandro (Belcolle Hospital) ; Universitat Autònoma de Barcelona
Variable disease progression confounds accurate prognosis in Fabry disease. Evidence supports the long-term benefit of early intervention with disease-specific therapy, but current guidelines recommend treatment initiation based on signs that may present too late to avoid irreversible organ damage. [...]
2022 - 10.1186/s13023-022-02181-4
Orphanet Journal of Rare Diseases, Vol. 17 (february 2022)  
3.
12 p, 1.2 MB 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 / Hughes, Derralynn A. (University College London) ; Aguiar, Patrício (University of Lisbon) ; Deegan, Patrick B. (University of Cambridge) ; Ezgu, Fatih (Gazi University) ; Frustaci, Andrea (University of Rome La Sapienza) ; Lidove, Olivier (Croix Saint Simon Hospital) ; Linhart, Aleš (Charles University. Faculty of Medicine in Hradec Králové) ; Lubanda, Jean-Claude (Charles University. Faculty of Medicine in Hradec Králové) ; Moon, James C. (Barts Heart Centre) ; Nicholls, Kathleen (The University of Melbourne) ; Niu, Dau-Ming (National Yang-Ming University) ; Nowak, Albina (University Hospital Zurich (Suïssa)) ; Ramaswami, Uma (Royal Free Hospital) ; Reisin, Ricardo (British Hospital of Buenos Aires) ; Rozenfeld, Paula (Instituto de Estudios Inmunológicos y Fisiopatológicos, UNLP - CONICET, La Plata, Argentina) ; Schiffmann, Raphael (Baylor Research Institute) ; Svarstad, Einar (Haukeland University Hospital (Bergen, Noruega)) ; Thomas, Mark (Cincinnati Children's Hospital Medical Center) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Vujkovac, Bojan (General Hospital Slovenj Gradec) ; Warnock, David G. (University of Alabama at Birmingham) ; West, Michael L. (Dalhousie University) ; Johnson, Jack (Fabry International Network) ; Rolfe, Mark J. (Oxford Pharmagenesis) ; Feriozzi, Sandro (Belcolle Hospital) ; Universitat Autònoma de Barcelona
The PRoposing Early Disease Indicators for Clinical Tracking in Fabry Disease (PREDICT-FD) initiative aimed to reach consensus among a panel of global experts on early indicators of disease progression that may justify FD-specific treatment initiation. [...]
2020 - 10.1136/bmjopen-2019-035182
BMJ open, Vol. 10 (october 2020)  
4.
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)  
5.
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  
6.
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  

Vegeu també: autors amb noms similars
1 Hughes, D.
2 Hughes, David
1 Hughes, David A.
1 Hughes, David P.
3 Hughes, Derralynn A
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