Resultats globals: 3 registres trobats en 0.02 segons.
Articles, 3 registres trobats
Articles 3 registres trobats  
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  

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