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Article

Successful use of cinacalcet monotherapy in the management of siblings with homozygous calcium-sensing receptor mutation.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Apr 2022

Wade Laura, Aindow Anita, Isherwood Lorraine, Mughal M Zulf, Ramakrishnan Renuka

Abstract excerpt

OBJECTIVES: Neonatal severe hyperparathyroidism (NSHPT) due to pathogenic mutations in the calcium-sensing receptor (CASR) is a serious medical condition that can lead to symptomatic hypercalcaemia and has detrimental effects on a child's growth and development. What is new: This report adds to evidence that homozygous CASR mutations can be managed with cinacalcet monotherapy as an alternative to...

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Source

Identifiers

PMID: 35073615
DOI: 10.1515/jpem-2021-0632

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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