Neonatal Severe Hyperparathyroidism Latest Advances

A novel homozygous inactivating mutation of the calcium-sensing receptor causing familial hypocalciuric hypercalcemia complicated with primary hyperparathyroidism due to parathyroid adenoma: A case report.

Journal: The Journal of international medical research

Published: March 19, 2026

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

Neonatal Severe Hyperparathyroidism Latest Advances

Find the Latest Research About Neonatal Severe Hyperparathyroidism

A novel homozygous inactivating mutation of the calcium-sensing receptor causing familial hypocalciuric hypercalcemia complicated with primary hyperparathyroidism due to parathyroid adenoma: A case report.

A novel homozygous inactivating mutation of the calcium-sensing receptor causing familial hypocalciuric hypercalcemia complicated with primary hyperparathyroidism due to parathyroid adenoma: A case report.

Congenital primary hyperparathyroidism.

Congenital primary hyperparathyroidism.

Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K).

Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K).

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

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

Surgical management of neonatal severe hyperparathyroidism.

Surgical management of neonatal severe hyperparathyroidism.

Familial states of primary hyperparathyroidism: an update.

Familial states of primary hyperparathyroidism: an update.

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.

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.

Clinical characteristics and genetic analysis of two children with neonatal severe hyperparathyroidism

Clinical characteristics and genetic analysis of two children with neonatal severe hyperparathyroidism

Neonatal severe hyperparathyroidism: A case report.

Neonatal severe hyperparathyroidism: A case report.

Ten-year follow-up report and neurologic sequelae in a case of neonatal severe primary hyperparathyroidism.

Ten-year follow-up report and neurologic sequelae in a case of neonatal severe primary hyperparathyroidism.

Subtotal Parathyroidectomy Successfully Controls Calcium Levels of Patients with Neonatal Severe Hyperparathyroidism Carrying a Novel CASR Mutation.

Subtotal Parathyroidectomy Successfully Controls Calcium Levels of Patients with Neonatal Severe Hyperparathyroidism Carrying a Novel CASR Mutation.

The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene.

The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene.