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Resultats globals: 3 registres trobats en 0.02 segons.
Articles, 3 registres trobats
Articles 3 registres trobats  
1.
16 p, 1.1 MB Genetics in chronic kidney disease : conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference / Köttgen, Anna (Institute of Genetic Epidemiology. Faculty of Medicine and Medical Center. University of Freiburg) ; Cornec-Le Gall, Emilie (Univ Brest. INSERM UMR 1078. GGB. CHU Brest) ; Halbritter, Jan (Charité - Universitätsmedizin Berlin) ; Kiryluk, Krzysztof (Division of Nephrology and Center for Precision Medicine and Genomics. Department of Medicine. Columbia University Irving Medical Center) ; Mallett, Andrew (KidGen Collaborative. Australian Genomics Health Alliance) ; Parekh, Rulan (Dalla Lana School of Public Health. and Health Policy. Management and Evaluation. University of Toronto) ; Rasouly, Hila Milo (Division of Nephrology and Center for Precision Medicine and Genomics. Department of Medicine. Columbia University Irving Medical Center) ; Sampson, Matthew G. (Kidney Disease Initiative. Broad Institute of MIT and Harvard) ; Tin, Adrienne (Division of Nephrology. University of Mississippi Medical Center) ; Antignac, Corinne (Department of Genetics. Necker Hospital. APHP) ; Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Bergmann, Carsten (Department of Nephrology. Faculty of Medicine and Medical Center. University of Freiburg) ; Bleyer, Anthony J. (Section on Nephrology. Wake Forest School of Medicine) ; Bockenhauer, Detlef (Department of Renal Medicine. University College London) ; Devuyst, Olivier (Department of Physiology. Mechanisms of Inherited Kidney Disorders Group. University of Zurich) ; Florez, Jose C. (Department of Medicine. Harvard Medical School) ; Fowler, Kevin J. (The Voice of the Patient. Inc.) ; Franceschini, Nora (Department of Epidemiology. Gillings School of Global Public Health. University of North Carolina) ; Fukagawa, Masafumi (Division of Nephrology. Endocrinology and Metabolism. Tokai University School of Medicine) ; Gale, Daniel (Rare Renal Disease Registry. UK Renal Registry) ; Gbadegesin, Rasheed A. (Department of Pediatrics. Division of Nephrology. Duke University Medical Center) ; Goldstein, David B. (Department of Genetics and Development. Columbia University) ; Grams, Morgan E. (Department of Nephrology. Johns Hopkins University School of Medicine) ; Greka, Anna (Department of Medicine. Brigham and Women's Hospital. Harvard Medical School) ; Gross, Oliver (University Medical Center Göttingen) ; Guay-Woodford, Lisa M. (Center for Translational Science. Children's National Health System) ; Harris, Peter C. (Division of Nephrology and Hypertension. Mayo Clinic) ; Hoefele, Julia (Technische Universität München. Institut für Humangenetik) ; Hung, Adriana M. (VA Tennessee Valley Healthcare System. Division of Nephrology and Hypertension. Department of Medicine. Vanderbilt Center for Kidney Disease. Vanderbilt Precision Nephrology Program. Vanderbilt University Medical Center) ; Knoers, Nine V.A.M. (Department of Genetics. University Medical Center Groningen) ; Kopp, Jeffrey B. (Kidney Disease Section. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). National Institutes of Health (NIH)) ; Kretzler, Matthias (Department of Computational Medicine and Bioinformatics. University of Michigan) ; Lanktree, Matthew B. (Department of Medicine. McMaster University) ; Lipska-Ziętkiewicz, Beata S. (Rare Diseases Centre and Clinical Genetics Unit. Department of Biology and Medical Genetics. Medical University of Gdansk) ; Nicholls, Kathleen (Department of Nephrology. Royal Melbourne Hospital. University of Melbourne) ; Nozu, Kandai (Department of Pediatrics. Kobe University Graduate School of Medicine) ; Ojo, Akinlolu (University of Kansas School of Medicine) ; Parsa, Afshin (Department of Medicine. University of Maryland School of Medicine) ; Pattaro, Cristian (Eurac Research. Institute for Biomedicine (affiliated with the University of Lübeck)) ; Pei, York (Division of Nephrology. University Health Network) ; Pollak, Martin R. (Division of Nephrology. Beth Israel Deaconess Medical Center. Harvard Medical School) ; Rhee, Eugene P. (Massachusetts General Hospital) ; Sanna-Cherchi, Simone (Columbia University) ; Savige, Judy (The University of Melbourne) ; Sayer, John (NIHR Newcastle Biomedical Research Centre) ; Scolari, Francesco (Department of Medical and Surgical Specialties. University of Brescia) ; Sedor, John R. (Case Western Reserve University. Department of Physiology and Biophysics) ; Sim, Xueling (Saw Swee Hock School of Public Health. National University of Singapore and National University Health System) ; Somlo, Stefan (Yale University. Department of Genetics) ; Susztak, Katalin (University of Pennsylvania. Perelman School of Medicine) ; Tayo, Bamidele O. (Loyola University Chicago. Department of Public Health Sciences) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; van Eerde, Albertien M. (Utrecht University Medical Center. Department of Genetics) ; Weinstock, André (Alport Syndrome Foundation) ; Winkler, Cheryl A. (Frederick National Laboratory for Cancer Research. National Cancer Institute) ; Wuttke, Matthias (University of Freiburg) ; Zhang, Hong (Key Ministry of Health of China. Laboratory of Renal Disease) ; King, Jennifer M. (August Editorial) ; Cheung, Michael (KDIGO) ; Jadoul, Michel (Université Catholique de Louvain. Cliniques Universitaires Saint Luc) ; Winkelmayer, Wolfgang C. (Baylor College of Medicine. Selzman Institute for Kidney Health) ; Gharavi, Ali G. (Columbia University Irving Medical Center) ; Universitat Autònoma de Barcelona
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental factors, have been discovered. [...]
2022 - 10.1016/j.kint.2022.03.019
Kidney International, Vol. 101 Núm. 6 (june 2022) , p. 1126-1141  
Registre complet - Creative Commons
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)  
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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)  
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1 Nicholls, K.
1 Nicholls, Kathy
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