Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

A High-Calcium and Phosphate Rescue Diet and VDR-Expressing Transgenes Normalize Serum Vitamin D Metabolite Profiles and RenalCyp27b1andCyp24a1Expression in VDR Null Mice

(2015) Martin Kaufmann et al.   ENDOCRINOLOGY

CYP2R1Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency

(2015) Tom D. Thacher et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Vitamin D treatment in calcium-deficiency rickets: a randomised controlled trial

(2014) T. D. Thacher et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Clinical Utility of Simultaneous Quantitation of 25-Hydroxyvitamin D and 24,25-Dihydroxyvitamin D by LC-MS/MS Involving Derivatization With DMEQ-TAD

(2014) Martin Kaufmann et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Cytochrome P450-mediated metabolism of vitamin D

(2013) Glenville Jones et al.   JOURNAL OF LIPID RESEARCH

CYP2R1 is a major, but not exclusive, contributor to 25-hydroxyvitamin D production in vivo

(2013) J. G. Zhu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Vitamin D 25-hydroxylase – Four decades of searching, are we there yet?

(2012) Jinge Zhu et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Absence of Mutation in Coding Regions of CYP2R1 Gene in Apparent Autosomal Dominant Vitamin D 25-Hydroxylase Deficiency Rickets

(2012) Hanan Tosson et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mutation of theCYP2R1Vitamin D 25-Hydroxylase in a Saudi Arabian Family with Severe Vitamin D Deficiency

(2012) Angham N. Al Mutair et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM