TY  -  
T1  - FGF23 and its role in X-linked hypophosphatemia-related morbidity 
SN  -  /  
UR  - http://hdl.handle.net/10138/299821 
T3  -  
A1  - Beck-Nielsen, Signe S; Mughal, Zulf; Haffner, Dieter; Nilsson, Ola; Levtchenko, Elena; Ariceta, Gema; de Lucas Collantes, Carmen; Schnabel, Dirk; Jandhyala, Ravi; Mäkitie, Outi 
A2  -  
PB  - BioMed Central 
Y1  - 2019 
LA  -  
AB  - Abstract
              
                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... 
VO  -  
IS  -  
SP  -  
OP  -  
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 
N1  -   
PP  -  
ER  -