Depósito Digital de Documentos de la UAB Encontrados 4 registros  La búsqueda tardó 0.00 segundos. 
1.
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)  
2.
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)  
3.
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  
4.
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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