Juvenile onset IIH and CYP24A1 mutations
Author:
Publisher
Elsevier BV
Subject
Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism
Reference45 articles.
1. Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations;Castanet;J. Pediatr.,2013
2. Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure;Colussi;Nephrol. Dial. Transplant.,2014
3. Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: a cross-sectional study;Cools;Bone,2015
4. Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis;Dasgupta;J. Am. Soc. Nephrol.,2014
5. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia;Dauber;J. Clin. Endocrinol. Metab.,2012
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1. Clinical heterogeneity and therapeutic options for idiopathic infantile hypercalcemia caused by CYP24A1 pathogenic variant;Journal of Pediatric Endocrinology and Metabolism;2023-09-29
2. Successful treatment of hypercalcemia in a Chinese patient with a novel homozygous mutation in the CYP24A1 gene using zoledronic acid: a case report;Journal of Pediatric Endocrinology and Metabolism;2023-06-27
3. Genetic Disorders of Calcium and Phosphorus Metabolism;Endocrines;2022-03-17
4. The genetics of kidney stone disease and nephrocalcinosis;Nature Reviews Nephrology;2021-12-14
5. Associations of CYP2B6 genetic polymorphisms with Hirschsprung’s disease in a southern Chinese population;Journal of Clinical Laboratory Analysis;2021-11-09
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