Mutation update and long-term outcome after treatment with active vitamin D 3 in Chinese patients with pseudovitamin D-deficiency rickets (PDDR)
2019
Summary
Pseudovitamin 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.
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