LC-MS/MS for Identifying Patients with CYP24A1 Mutations.

Abstract

BACKGROUND Patients have been described with loss-of-function CYP24A1 (cytochrome P450, family 24, subfamily A, polypeptide 1) mutations that cause a high ratio of 25-hydroxyvitamin D to 24,25-dihydroxyvitamin D [25(OH)D/24,25(OH)2D], increased serum 1,25-dihydroxyvitamin D, and resulting hypercalcemia, hypercalciuria and nephrolithiasis. A 25(OH)D/24,25(OH… (More)
DOI: 10.1373/clinchem.2015.244459

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Cite this paper

@article{Ketha2016LCMSMSFI, title={LC-MS/MS for Identifying Patients with CYP24A1 Mutations.}, author={Hemamalini Ketha and Rajiv B. Kumar and Ravinder Jit Singh}, journal={Clinical chemistry}, year={2016}, volume={62 1}, pages={236-42} }