Kidney Function and Influence of Sunlight Exposure in Patients With Impaired 24-Hydroxylation of Vitamin D Due to CYP24A1 Mutations
Author:
Publisher
Elsevier BV
Subject
Nephrology
Reference8 articles.
1. Mutations in CYP24A1 and idiopathic infantile hypercalcemia;Schlingmann;N Engl J Med,2011
2. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia;Dauber;J Clin Endocrinol Metab,2012
3. 1,25-(OH)2D-24 Hydroxylase (CYP24A1) deficiency as a cause of nephrolithiasis;Nesterova;Clin J Am Soc Nephrol,2013
4. CYP24A1 mutations in idiopathic infantile hypercalcemia [letter];Streeten;N Engl J Med,2011
5. Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene;Fencl;Eur J Pediatr,2013
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2. Persistent hypercalcaemia associated with two pathogenic variants in the CYP24A1 gene and a parathyroid adenoma—a case report and review;Frontiers in Endocrinology;2024-04-11
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