LC-MS/MS for Identifying Patients with CYP24A1 Mutations
نویسندگان
چکیده
منابع مشابه
LC-MS/MS for Identifying Patients with CYP24A1 Mutations.
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)2D ratio that can identify patients w...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2016
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2015.244459