Mutation update and long-term outcome after treatment with active vitamin D3 in Chinese patients with pseudovitamin D-deficiency rickets (PDDR)

@article{Chi2018MutationUA,
  title={Mutation update and long-term outcome after treatment with active vitamin D3 in Chinese patients with pseudovitamin D-deficiency rickets (PDDR)},
  author={Yongdong Chi and Jing Sun and Lijuan Pang and Ruizhi Jiajue and Yueming Jiang and Ou Wang and Mengting Li and Xiaoping Xing and Yu Sheng Hu and Xiaoping Zhou and Xianjie Meng and Weibo Xia},
  journal={Osteoporosis International},
  year={2018},
  volume={30},
  pages={481-489}
}
SummaryPseudovitamin D-deficiency rickets is a rare disease which is caused by CYP27B1. In this study, we identified 9 mutations in 7 PDDR patients. In addition, we observed the response to long-term treatment of calcitriol in 15 Chinese patients with PDDR, which showed that the biochemical abnormalities had been corrected satisfactorily after 1-year treatment.IntroductionPseudovitamin D-deficiency rickets is a rare autosomal recessive disorder resulting from a defect in 25-hydroxyvitamin D 1… CONTINUE READING
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