Associated Papers
Management of Neonatal Severe Hyperparathyroidism due to Homozygous CASR Mutation: Challenges and Literature Insights.
Karakaş H et al.
Molecular Syndromology, 2025
Heterogeneous Origins of Calcium Homeostasis Disorders Arising From 5 Heterozygous Calcium-Sensing Receptor Variants.
Du W et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K).
Donbaloglu Z et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025
Personalised medicines for familial hypercalcemia and hyperparathyroidism.
Josephs TM et al.
Journal of Molecular Endocrinology, 2022
The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene.
Özgüç Çömlek F et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2022
Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience.
Bernardor J et al.
Frontiers in Pediatrics, 2022
The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.
Tan RSG et al.
Experimental Biology and Medicine (maywood, N.j.), 2021
A novel case of neonatal severe hyperparathyroidism successfully treated with a type II calcimimetic drug.
Leunbach TL et al.
Bone Reports, 2021
Cinacalcet as a First-Line Treatment in Neonatal Severe Hyperparathyroidism Secondary to Calcium Sensing Receptor (CaSR) Mutation.
Gulcan-Kersin S et al.
Hormone Research in Paediatrics, 2020
Novel homozygous inactivating mutation of the calcium-sensing receptor gene in neonatal severe hyperparathyroidism responding to cinacalcet therapy: A case report and literature review.
Sun X et al.
Medicine, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
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