Pen-Hua Su, Ju-Shan Yu, Yu-Zhen Wu, Yu-Shen Tsai, Fu-Sung Lo, Ju-Li Lin, Mei-Chyn Chao, Chia-Chi Hsu, Yu-Yuan Ke, Pao-Chin Chiu, Jo-Ching Chen, Ying-Hua Huang, Shuan-Pei Lin, Yen-Yin Chou, Wei-Hsin Ting, Shuo-Yu Wang, Chiao-Fan Chiu, Yen-Chun Huang, Hui-Pin Hsiao, Chao-Hsu Lin, Chung-Hsing Wang, DA-Tian Bau, Ching-Yuang Lin
BACKGROUND/AIM: X-linked hypophosphatemia (XLH), the most common form of hereditary rickets, results from loss-of-function mutations in the phosphate-regulating PHEX gene. Elevated fibroblast growth factor 23 (FGF23) contributes to hypophosphatemia in XLH. This study aimed to characterize PHEX variants and serum FGF23 profiles in Taiwanese patients with XLH. PATIENTS AND METHODS: We retrospectively reviewed the records of 102 patients clinically suspected of having hypophosphatemic rickets from 2006 to 2022...
2024: In Vivo