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Resultados globales: 5 registros encontrados en 0.03 segundos.
Artículos, Encontrados 5 registros
Artículos Encontrados 5 registros  
1.
11 p, 6.0 MB Cardio-renal outcomes with long-term agalsidase alfa enzyme replacement therapy : A 10-year fabry outcome survey (FOS) analysis / Ramaswami, Uma (Royal Free London NHS Foundation Trust. Lysosomal Disorders Unit. Institute of Immunity and Transplantation) ; Beck, Michael (Centre for Paediatric and Adolescent Medicine. University Medical Centre. University of Mainz) ; Hughes, D. (Royal Free London NHS Foundation Trust. Lysosomal Disorders Unit. Institute of Immunity and Transplantation) ; Kampmann, C. (Centre for Paediatric and Adolescent Medicine. University Medical Centre. University of Mainz) ; Botha, J. (Department of Biostatistics and Programming. Takeda) ; Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; West, M. L. (Department of Medicine. Dalhousie University) ; Niu, D. M. (Department of Paediatrics. Taipei Veterans General Hospital) ; Nicholls, K. (Royal Melbourne Hospital (Melbourne, Austràlia)) ; Giugliani, R. (Medical Genetics Service HCPA. Department of Genetics. UFRGS. INAGEMP) ; Universitat Autònoma de Barcelona
Purpose: Following the publication of 5-year agalsidase alfa enzyme replacement therapy (ERT) outcomes data from the Fabry Outcome Survey (FOS), 10-year data were analyzed. Patients and methods: FOS (ClinicalTrials. [...]
2019 - 10.2147/DDDT.S207856
Drug Design, Development and Therapy, Vol. 13 (2019) , p. 3705-3715  
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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, 568.2 KB Paediatric Fabry disease : prognostic significance of ocular changes for disease severity / Kalkum, Gisela (Department of Paediatrics, Helios-Dr-Horst-Schmidt-Kliniken HSK, Ludwig-Erhard-Strasse 100, 65199 Wiesbaden, Germany) ; Pitz, Susanne (Department of Ophthalmology, University Medical Centre, Johannes Gutenberg University, Mainz, Germany) ; Karabul, Nesrin (Department of Neuropaediatrics and Inborn Metabolic Disorders (Metabolicum Ruhr), University Children's Hospital, Centre for Rare Diseases, Ruhr University Bochum, Bochum, Germany) ; Beck, Michael (Institute of Human Genetics, University Medical Centre, Johannes Gutenberg University, Mainz, Germany) ; Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Parini, Rossella (Ospedale San Gerardo (Itàlia)) ; Rohrbach, Marianne (Division of Metabolism, University Children's Hospital, Children's Research Centre, Zurich, Switzerland) ; Bizjajeva, Svetlana (Shire, Zug, Switzerland) ; Ramaswami, Uma (Lysosomal Disorders Unit, Royal Free London Hospitals NHS Foundation Trust, London, UK) ; Universitat Autònoma de Barcelona
Ocular signs of Fabry disease can be seen in the first decade of life. We examined the occurrence of ocular signs in 232 paediatric patients in the Fabry Outcome Survey (FOS) international registry and looked for relationships between the presence of eye findings and disease severity as measured by the FOS Mainz severity score index (FOS-MSSI). [...]
2016 - 10.1186/s12886-016-0374-2
BMC ophthalmology, Vol. 16 (november 2016)  
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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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5.
9 p, 293.0 KB Fabry disease in children and the effects of enzyme replacement treatment / Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Beck, Michael (University Children's Hospital, Mainz, Germany) ; Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i de Medicina Preventiva i Salut Pública
Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a deficiency in the activity of the lysosomal enzyme, α-galactosidase A. In affected patients, the enzyme substrate, globotriaosylceramide (Gb3), accumulates in cells of various tissues and organs. [...]
2009 - 10.1007/s00431-009-0937-9
European Journal of Pediatrics, Vol. 168 (2 2009) , p. 1355-1363  
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1 Beck, M.W.
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