Idiopathic infantile hypercalcemia: a family case
- Authors: Sadykova D.I1, Makarova T.P.1, Shakirova A.R2, Melnikova Y.S1, Sergina P.V1, Sergina A.V1
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Affiliations:
- Kazan State Medical University, Department of Hospital Pediatrics
- Children's Republican Clinical Hospital
- Issue: Vol 29, No 1 (2022)
- Pages: 96-99
- Section: Articles
- URL: https://journals.eco-vector.com/2073-4034/article/view/320951
- DOI: https://doi.org/10.18565/pharmateca.2022.1.96-99
- ID: 320951
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Abstract
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About the authors
D. I Sadykova
Kazan State Medical University, Department of Hospital PediatricsDepartment of Hospital Pediatrics Kazan, Russia
Tamara P. Makarova
Kazan State Medical University, Department of Hospital Pediatrics
Email: makarova-kgmu@mail.ru
Dr. Sci. (Med.), Professor, Department of Hospital Pediatrics Kazan, Russia
A. R Shakirova
Children's Republican Clinical HospitalKazan, Russia
Yu. S Melnikova
Kazan State Medical University, Department of Hospital PediatricsDepartment of Hospital Pediatrics Kazan, Russia
P. V Sergina
Kazan State Medical University, Department of Hospital PediatricsDepartment of Hospital Pediatrics Kazan, Russia
A. V Sergina
Kazan State Medical University, Department of Hospital PediatricsDepartment of Hospital Pediatrics Kazan, Russia
References
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- Schlingmann K.P., Kaufmann M., Weber S., et al. Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med. 2011;365(5):410-21. doi: 10.1056/nejmoa1103864.
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- Dauber A., Nguyen T.T., Sochett E., et al. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. J Clin Endocrinol Metab. 2012;97(2):E268-74. doi: 10.1210/jc.2011-1972.
- Madsen J., Sauer S., Beck B, et al. CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia. J Clin Res Pediatr Endocrinol. 2018;10(1):83-6. doi: 10.4274/jcrpe.4841.