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T1  - FGF23 and its role in X-linked hypophosphatemia-related morbidity 
SN  -  /  
UR  - http://hdl.handle.net/10138/300315 
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A1  - Beck-Nielsen, Signe Sparre; Mughal, Zulf; Haffner, Dieter; Nilsson, Ola; Levtchenko, Elena; Ariceta, Gema; Collantes, Carmen de Lucas; Schnabel, Dirk; Jandhyala, Ravi; Mäkitie, Outi 
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Y1  - 2019 
LA  - eng 
AB  - Background: 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. Patients with XLH present with elevated levels of fibroblast growth factor 23 (F... 
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KW  - X-linked hypophosphatemia (XLH); fibroblast growth factor 23 (FGF23); phosphate regulating endopeptidase homolog; X-linked (PHEX); hypophosphatemia; vitamin D deficiency; rickets; osteomalacia; bone dysplasia; ectopic calcification; muscle weakness; dental abscess; hearing impairment; FIBROBLAST-GROWTH-FACTOR; ALKALINE-PHOSPHATASE GENE; VITAMIN-D; MOUSE MODEL; HYP-MOUSE; COTRANSPORTER GENE; TRANSGENIC MICE; PHEX MUTATION; MURINE MODEL; HEARING-LOSS; 3111 Biomedicine; 1184 Genetics, developmental biology, physiology 
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