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Articles 2 registres trobats  
1.
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)  
Registre complet - Creative Commons
2.
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)  
Registre complet - Creative Commons

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