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

Pub. Date : 2019 Feb

PMID : 30382318






3 Functional Relationships(s)
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1 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. Calcitriol cytochrome P450 family 27 subfamily B member 1 Homo sapiens
2 The purpose of this study was to identify the CYP27B1 mutations and investigate the response to long-term treatment of calcitriol in Chinese patients with PDDR. Calcitriol cytochrome P450 family 27 subfamily B member 1 Homo sapiens
3 To investigate the response to long-term (13 years) treatment with calcitriol in PDDR patients, we additionally collected clinical data of eight families from our previous report and analyzed their biochemical parameter and radiographic changes during the treatment. Calcitriol cytochrome P450 family 27 subfamily B member 1 Homo sapiens