Article
Rescue of the pseudo-vitamin D deficiency rickets phenotype of CYP27B1-deficient mice by treatment with 1,25-dihydroxyvitamin D3: biochemical, histomorphometric, and biomechanical analyses.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Apr 2003
Dardenne Olivier, Prudhomme Josée, Hacking S Adam, Glorieux Francis H, St-Arnaud René
Abstract excerpt
The treatment of choice for pseudo-vitamin D deficiency rickets (PDDR), caused by mutations in the 25-hydroxyvitamin D-1alpha-hydroxylase (CYP27B1; 1alpha-OHase) gene, is replacement therapy with 1,25(OH)2D3. We have previously engineered an animal model of PDDR by targeted inactivation of the 1alpha-OHase gene in mice. Replacement therapy was performed in this model. The 1alpha-OHase-/- mice and heterozygote...
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