Novel homozygous inactivating mutation of the calcium-sensing receptor gene in neonatal severe hyperparathyroidism responding to cinacalcet therapy
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference27 articles.
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3. Diseases associated with calcium-sensing receptor;Vahe;Orphanet J Rare Dis,2017
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1. Besonderheiten in Diagnostik und Therapie des hereditären primären Hyperparathyreoidismus;Die Chirurgie;2023-06-08
2. Cinacalcet therapy in a child with novel homozygous casr p.glu353lys mutation causing familial hypocalciuric hypercalcemia type 1: case report and review of the literature;The Turkish Journal of Pediatrics;2023
3. Subtotal Parathyroidectomy Successfully Controls Calcium Levels of Patients with Neonatal Severe Hyperparathyroidism Carrying a Novel CASR Mutation;Hormone Research in Paediatrics;2023
4. Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience;Frontiers in Pediatrics;2022-08-24
5. Personalised medicines for familial hypercalcemia and hyperparathyroidism;Journal of Molecular Endocrinology;2022-03
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