|
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
|
|
|
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 (Bèlgica)) ;
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)
|
|
|
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
|
|
|
4.
|
|
11 p, 793.9 KB |
The international X-linked hypophosphataemia (XLH) registry (NCT03193476) : rationale for and description of an international, observational study
/
Padidela, Raja (University of Manchester) ;
Nilsson, Ola (Örebro University) ;
Makitie, Outi (Helsinki University Hospital (Finlàndia)) ;
Beck-Nielsen, Signe (Aarhus University Hospital (Aarhus, Dinamarca)) ;
Ariceta Iraola, Gema (Hospital Universitari Vall d'Hebron) ;
Schnabel, Dirk (University Medicine Berlin) ;
Brandi, Maria Luisa (University of Florence) ;
Boot, Annemieke (University of Groningen) ;
Levtchenko, Elena (University Hospitals Leuven (Bèlgica)) ;
Smyth, Michael (Kyowa Kirin International) ;
Jandhyala, Ravi (Medialis Ltd (Regne Unit)) ;
Mughal, Zulf (University of Manchester)
X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activity; XLH has an incidence of approximately 1 in 20-25,000 individuals. [...]
2020 - 10.1186/s13023-020-01434-4
Orphanet Journal of Rare Diseases, Vol. 15 (june 2020)
|
|
|
5.
|
|
9 p, 631.3 KB |
The ANTENATAL multicentre study to predict postnatal renal outcome in fetuses with posterior urethral valves : objectives and design
/
Buffin-Meyer, Bénédicte (Université Toulouse III Paul-Sabatier) ;
Klein, Julie (Université Toulouse III Paul-Sabatier) ;
van der Zanden, Loes F. M. (Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center) ;
Levtchenko, Elena (Department of Development & Regeneration) ;
Moulos, Panogiotis (HybridStat Predictive Analytics) ;
Lounis, Nadia (Unité de Recherche Clinique Pédiatrique, Module Plurithématique Pédiatrique du Centre D'Investigation Clinique Toulouse 1436) ;
Conte-Auriol, Françoise (Unité de Recherche Clinique Pédiatrique, Module Plurithématique Pédiatrique du Centre D'Investigation Clinique Toulouse 1436) ;
Hindryckx, An (University Hospitals Leuven (Bèlgica)) ;
Wühl, Elke (Heidelberg University Hospital (Alemanya)) ;
Persico, Nicola (Sergio Bonelli Centre for the Prevention of Renal Failure from Fetal to Pediatric Age) ;
Oepkes, Dick (Department of Prenatal Diagnosis and Therapy, Leiden University Medical Center) ;
Schreuder, Michiel F. (Department of Pediatric Nephrology, Radboudumc Amalia Children's Hospital, Radboud Institute for Molecular Life Sciences) ;
Tkaczyk, Marcin (Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute) ;
Ariceta Iraola, Gema (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ;
Fossum, Magdalena (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Parvex, Paloma (Pediatric Nephrology, Unité Romande de Néphrologie Pédiatrique, Hôpitaux Universitaire Genève (HUG)) ;
Feitz, Wout (For ERN eUROGEN, Department of Urology, Radboudumc Amalia Children's Hospital, Radboud University Medical Center) ;
Olsen, Henning (Aarhus University Hospital (Aarhus, Dinamarca)) ;
Montini, Giovanni (For ERN ERKNet, Pediatric Nephrology-Centro Sergio Bonelli for the Prevention and Treatment of Urinary Tract Malformations) ;
Decramer, Stéphane (Centre De Référence des Maladies Rénales Rares du Sud-Ouest (SORARE)) ;
Schanstra, Joost P. (Université Toulouse III Paul-Sabatier) ;
Universitat Autònoma de Barcelona
Posterior urethral valves (PUV) account for 17% of paediatric end-stage renal disease. A major issue in the management of PUV is prenatal prediction of postnatal renal function. Fetal ultrasound and fetal urine biochemistry are currently employed for this prediction, but clearly lack precision. [...]
2019 - 10.1093/ckj/sfz107
Clinical Kidney Journal, Vol. 13 (september 2019) , p. 371-379
|
|
|
6.
|
|
25 p, 3.0 MB |
FGF23 and its role in X-linked hypophosphatemia-related morbidity
/
Beck-Nielsen, Signe (Aarhus University Hospital. Centre for Rare Diseases) ;
Mughal, Zulf (Royal Manchester Children's Hospital) ;
Haffner, Dieter (Hannover Medical School) ;
Nilsson, Ola (Karolinska Institutet, Stockholm, Sweden and Örebro University) ;
Levtchenko, Elena (Katholieke Universiteit Leuven) ;
Ariceta Iraola, Gema (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
de Lucas-Collantes, Carmen (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
Schnabel, Dirk (University Children's Hospital of Berlin, Berlin) ;
Jandhyala, Ravi (Medialis Ltd, Banbury) ;
Mäkitie, Outi (Helsinki University Hospital (Finlàndia)) ;
Universitat Autònoma de Barcelona
X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) gene lead to local and systemic effects including impaired growth, rickets, osteomalacia, bone abnormalities, bone pain, spontaneous dental abscesses, hearing difficulties, enthesopathy, osteoarthritis, and muscular dysfunction. [...]
2019 - 10.1186/s13023-019-1014-8
Orphanet Journal of Rare Diseases, Vol. 14 (february 2019)
|
|
visitant ::
identificació
alerta personal via correu electrònic o subscribiu-vos al 
canal RSS.
