Neonatal Severe Hyperparathyroidism Latest Advances

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

Generation of CRISPR/Cas9 modified human iPSC line with correction of heterozygous mutation in exon 6 of the CaSR gene.

Journal: Human cell

Published: June 25, 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