Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 06/27/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 52 publications
Congenital primary hyperparathyroidism.
Journal: Best practice & research. Clinical endocrinology & metabolism
Published: February 12, 2025
Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K).
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: November 29, 2024
Surgical management of neonatal severe hyperparathyroidism.
Journal: Annals of Saudi medicine
Published: November 02, 2023
Familial states of primary hyperparathyroidism: an update.
Journal: Journal of endocrinological investigation
Published: October 25, 2023
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.
Journal: The Turkish journal of pediatrics
Published: October 19, 2023
Clinical characteristics and genetic analysis of two children with neonatal severe hyperparathyroidism
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: August 02, 2023
Neonatal severe hyperparathyroidism: A case report.
Journal: JPMA. The Journal of the Pakistan Medical Association
Published: May 29, 2023
Ten-year follow-up report and neurologic sequelae in a case of neonatal severe primary hyperparathyroidism.
Journal: Clinical case reports
Published: April 18, 2023
Subtotal Parathyroidectomy Successfully Controls Calcium Levels of Patients with Neonatal Severe Hyperparathyroidism Carrying a Novel CASR Mutation.
Journal: Hormone research in paediatrics
Published: August 23, 2022
The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene.
Journal: Pediatric endocrinology, diabetes, and metabolism
Published: April 11, 2022
Case Report: Unusual Presentations of Loss-of-Function Mutations of the Calcium-Sensing Receptor.
Journal: Frontiers in medicine
Published: November 04, 2021
Last Updated: 06/27/2025