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Artículos, Encontrados 4 registros
Artículos Encontrados 4 registros  
1.
10 p, 676.5 KB Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients / Levtchenko, Elena (Department of Pediatrics, University Hospitals Leuven Campus Gasthuisberg (Bélgica)) ; Servais, Aude (Nephrology and Transplantation Department, Hôpital Necker Enfants Malades APHP (França)) ; Hulton, Sally A (Department of Nephrology, Birmingham Women's and Children's Hospital NHS Foundation Trust (Regne Unit)) ; Ariceta Iraola, Gema (Hospital Universitari Vall d'Hebron) ; Emma, Francesco (Ospedale Pediatrico Bambino Gesù-IRCCS (Itàlia)) ; Game, David S (Department of Renal Medicine, Guy's and St Thomas' NHS Foundation Trust (Regne Unit)) ; Lange, Karin (Hannover Medical School (Alemanya)) ; Lapatto, Risto (Department of Pediatrics, Children's Hospital, Helsinki University Hospital and University of Helsinki) ; Liang, Hong (CHNO des Quinze-Vingts, IHU ForeSight (França)) ; Sberro-Soussan, Rebecca (Paris Descartes University-Sorbonne Paris Cité) ; Topaloglu, Rezan (Hacettepe University (Turquia)) ; Das, Anibh M (Clinic for Paediatric Kidney-, Liver- and Metabolic Diseases (Alemanya)) ; Webb, Nicholas J A (Department of Paediatric Nephrology, University of Manchester) ; Wanner, Christoph (University Hospital Würzburg (Alemanya)) ; Universitat Autònoma de Barcelona
Cystinosis, a rare autosomal recessive lysosomal storage disorder, results in an abnormal accumulation of the amino acid cystine in multiple organs and tissues of the body. Renal symptoms typically develop in the first few months of life, with extra-renal manifestations becoming apparent over the next 10-20 years, which require coordinated multidisciplinary care. [...]
2022 - 10.1093/ckj/sfac099
Clinical Kidney Journal, Vol. 15 (april 2022) , p. 1675-1684  
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2.
13 p, 587.1 KB Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia : rationale and description / Brandi, Maria Luisa (FIRMO Foundation (Itàlia)) ; Ariceta Iraola, Gema (Hospital Universitari Vall d'Hebron) ; Beck-Nielsen, Signe (Aarhus University Hospital (Aarhus, Dinamarca)) ; Boot, Annemieke (University of Groningen) ; Briot, Karine (Université de Paris) ; de Lucas-Collantes, Carmen (Universidad Autónoma de Madrid) ; Emma, Francesco (Bambino Gesù Children's Hospital IRCCS (Itàlia)) ; Giannini, Sandro (University of Padua) ; Haffner, Dieter (Children's Hospital (Alemanya)) ; Keen, Richard (Royal National Orthopaedic Hospital NHS Trust (Regne Unit)) ; Levtchenko, Elena (University Hospitals Leuven) ; Mӓkitie, Outi (Helsinki University Hospital) ; Nilsson, Ola (Karolinska Institutet and University Hospital) ; Schnabel, Dirk (Charitè, University Medicine) ; Tripto-Shkolnik, Liana (Tel-Aviv University) ; Zillikens, M. Carola (Department of Internal Medicine, Erasmus MC Bone Center - Erasmus University Medical Center, Rotterdam (Holanda)) ; Liu, Jonathan (Kyowa Kirin International (Regne Unit)) ; Tudor, Alina (Kyowa Kirin International (Regne Unit)) ; Mughal, M. Zulf (Royal Manchester Children's Hospital) ; Universitat Autònoma de Barcelona
X-linked hypophosphataemia (XLH) is a rare, inherited, phosphate-wasting disorder that elevates fibroblast growth factor 23 (FGF23), causing renal phosphate-wasting and impaired active vitamin D (1,25(OH)D) synthesis. [...]
2022 - 10.1177/20406223221117471
Therapeutic Advances in Chronic Disease, Vol. 13 (september 2022)  
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3.
13 p, 785.5 KB Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome : an international cross-sectional study / Verploegen, Maartje F A (Radboud University Medical Center) ; Vargas-Poussou, Rosa (Hôpital Européen Georges Pompidou Assistance Publique Hôpitaux de Paris) ; Walsh, Stephen B (University College London) ; Alpay, Harika (Marmara University) ; Amouzegar, Atefeh (Hospital Universitari Vall d'Hebron) ; Ariceta Iraola, Gema (Iran University of Medical Sciences) ; Atmis, Bahriye (Cukurova University Faculty of Medicine) ; Bacchetta, Justine (University Children's Hospital (França)) ; Bárány, Peter (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Baron, Stéphanie (Hôpital Européen Georges Pompidou Assistance Publique Hôpitaux de Paris) ; Bayrakci, Umut Selda (Üniversiteler Mahallesi Bilkent Caddesi) ; Belge, Hendrica (University of Groningen) ; Besouw, Martine (Hôpital Européen Georges Pompidou Assistance Publique Hôpitaux de Paris) ; Blanchard, Anne (Université de Paris) ; Bökenkamp, Arend (Universiteit Amsterdam) ; Boyer, Olivia (Paris University) ; Burgmaier, Kathrin (University of Cologne) ; Calò, Lorenzo A (University of Padova) ; Decramer, Stéphane (Toulouse University Hospital) ; Devuyst, Olivier (University of Zurich) ; van Dyck, Maria (University Hospitals Leuven (Bèlgica)) ; Ferraro, Pietro Manuel (Fondazione Policlinico Universitario A. Gemelli) ; Fila, Marc (University Hospital of Montpellier (França)) ; Francisco, Telma (Centro Hospitalar Universitário de Lisboa Central) ; Ghiggeri, Gian Marco (Istituto Giannina Gaslini) ; Gondra, Leire (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Guarino, Stefano (Università degli Studi della Campania 'Luigi Vanvitelli') ; Hooman, Nakysa (Iran University of Medical Sciences) ; Hoorn, Ewout J (University Medical Centre Rotterdam) ; Houillier, Pascal (Hôpital Européen Georges Pompidou Assistance Publique Hôpitaux de Pari) ; Kamperis, Konstantinos (Aarhus University Hospital (Aarhus, Dinamarca)) ; Kari, Jameela A (King Abdulaziz University) ; Konrad, Martin (University Hospital of Münster (Alemanya)) ; Levtchenko, Elena (University Hospitals Leuven (Bèlgica)) ; Lucchetti, Laura (Bambino Gesù Children's Hospital) ; Lugani, Francesca (Children's Hospital of Lucerne) ; Marzuillo, Pierluigi (Università degli Studi della Campania 'Luigi Vanvitelli') ; Mohidin, Barian (University College London) ; Neuhaus, Thomas J (Children's Hospital of Lucerne) ; Osman, Abdaldafae (Great Ormond Street Hospital for Children (Londres)) ; Papizh, Svetlana (Pirogov Russian National Research Medical University) ; Perelló, Manel (Hospital Universitari Vall d'Hebron) ; Rookmaaker, Maarten B (University Medical Centre Utrecht) ; Conti, Valerie Said (Mater Dei Hospital Malta) ; Santos, Fernando (Universidad de Oviedo) ; Sawaf, Ghalia (Damascus Hospital) ; Serdaroglu, Erkin (Dr Behçet Uz Children's Hospital) ; Szczepanska, Maria (SUM in Katowice) ; Taroni, Francesca (Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico) ; Topaloglu, Rezan (Hacettepe University School of Medicine) ; Trepiccione, Francesco (University of Campania "L. Vanvitelli") ; Vidal, Enrico (University of Udine) ; Wan, Elizabeth R (Istanbul University) ; Weber, Lutz (Uniklinik Köln (Colònia, Alemanya)) ; Yildirim, Zeynep Yuruk (Istanbul University) ; Yüksel, Selçuk (Pamukkale University School of Medicine) ; Zlatanova, Galia (University Children's Hospital Medical University (Bulgària)) ; Bockenhauer, Detlef (University College London) ; Emma, Francesco (Bambino Gesù Children's Hospital) ; Nijenhuis, Tom (Radboud University Medical Center) ; Universitat Autònoma de Barcelona
Small cohort studies have reported high parathyroid hormone (PTH) levels in patients with Bartter syndrome and lower serum phosphate levels have anecdotally been reported in patients with Gitelman syndrome. [...]
2022 - 10.1093/ndt/gfac029
Nephrology Dialysis Transplantation, Vol. 37 (february 2022) , p. 2474-2486  
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4.
12 p, 666.2 KB Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease : a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice / Gansevoort, Ron T.. (University Medical Center Groningen, University of Groningen) ; Arici, Mustafa (Hacettepe University Faculty of Medicine) ; Benzing, Thomas (University of Cologne) ; Birn, Henrik (Aarhus University) ; Capasso, Giovambattista (Second University of Naples) ; Covic, Adrian (and 'Grigore T. Popa' University of Medicine. C.I. PARHON' University Hospital) ; Devuyst, Olivier (UCL Medical School) ; Drechsler, Christiane (University Hospital. University of Würzburg) ; Eckardt, Kai-Uwe (Friedrich-Alexander University Erlangen-Nürnberg (FAU)) ; Emma, Francesco (Bambino Gesù Children's Hospital) ; Knebelmann, Bertrand (Paris Descartes University. Hôpital Necker) ; Le Meur, Yannick (Hôpital La Cavale Blanche, Centre Hospitalier Régional Universitaire de Brest) ; Massy, Ziad A. (University of Paris Saclay and Paris Ouest-Versailles-Saint-Quentin-en-Yvelines (UVSQ)) ; Ong, Albert C. M. (University of Sheffield Medical School) ; Ortiz, Alberto (Red de Investigación Renal) ; Schaefer, Franz (Heidelberg University Hospital (Alemanya)) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Vanholder, Raymond (Universitair Ziekenhuis Gent) ; Więcek, Andrzej (Medical University of Silesia in Katowice) ; Zoccali, Carmine (CNR-IFC Clinical Epidemiology and Pathophysiology of Renal Diseases and Hypertension Unit, Reggio Calabria c/o Ospedali Riuniti) ; Van Biesen, Wim (Universitair Ziekenhuis Gent) ; Universitat Autònoma de Barcelona ; Institut Puigvert
Recently, the European Medicines Agency approved the use of the vasopressin V2 receptor antagonist tolvaptan to slow the progression of cyst development and renal insufficiency of autosomal dominant polycystic kidney disease (ADPKD) in adult patients with chronic kidney disease stages 1-3 at initiation of treatment with evidence of rapidly progressing disease. [...]
2016 - 10.1093/ndt/gfv456
Nephrology Dialysis Transplantation, Vol. 31 (january 2016) , p. 337-348  
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