Lightwood Syndrome Revisited with a Novel Mutation in CYP24 and Vitamin D Supplement Recommendations
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference8 articles.
1. Idiopathic hypercalcemia in infants;Lightwood;Lancet,1953
2. Mutations in CYP24A1 and idiopathic infantile hypercalcemia;Schlingmann;N Engl J Med,2011
3. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia;Dauber;J Clin Endocrinol Metab,2012
4. Take another CYP: confirming a novel mechanism for “idiopathic” hypercalcemia;Carpenter;J Clin Endocrinol Metab,2012
5. Infantile hypercalcemia and hypercalciuria: new insights into a vitamin D-dependent mechanism and response to ketoconazole treatment;Nguyen;J Pediatr,2010
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2. Case report: Non-PTH-dependent hypercalcemia in pregnancy: Consider CYP24A1 mutations;Annales d'Endocrinologie;2023-12
3. Clinical heterogeneity and therapeutic options for idiopathic infantile hypercalcemia caused by CYP24A1 pathogenic variant;Journal of Pediatric Endocrinology and Metabolism;2023-09-29
4. 25(OH)D Concentration in Neonates, Infants, Toddlers, Older Children and Teenagers from Poland—Evaluation of Trends during Years 2014–2019;Nutrients;2023-08-06
5. Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review;European Journal of Endocrinology;2022-02-01
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