Concepedia

Publication | Open Access

1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis

DOIFull Paper Access

151

Citations

39

References

2013

Year

Galina Nesterova, May Christine V. Malicdan, Kaori Yasuda, Toshiyuki Sakaki, Thierry Vilboux, Carla Ciccone, Ronald L. Horst, Yan Huang, Gretchen Golas, Wendy J. Introne,
Clinical Journal of the American Society of Nephrology

Abstract

The results of this study show that 1,25(OH)2D-24-hydroxylase deficiency due to bi-allelic mutations in CYP24A1 causes elevated serum vitamin D, hypercalciuria, nephrocalcinosis, and renal stones.

References

YearCitations

Page 1