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Last Updated: 10/31/2025
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Found 118 publications
Familial hypocalciuric hypercalcaemia type 1 due to a rare CASR missense mutation: a delayed diagnosis in a man with chronic hypercalcaemia.
Journal: BMJ case reports
Published: September 10, 2025
Singular case report of familial hypocalciuric hypercalcemia: a rare diagnosis of hypercalcemia in the older people.
Journal: The aging male : the official journal of the International Society for the Study of the Aging Male
Published: December 09, 2024
Case Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature.
Journal: Frontiers in endocrinology
Published: September 28, 2024
Familial Hypocalciuric Hypercalcemia Type 1 Likely Secondary to a New Inactivating Mutation of CASR
Journal: Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia
Published: September 07, 2024
Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: April 17, 2024
Is biochemical screening enough to guide calcium-sensing receptor gene mutational analysis when diagnosing familial hypocalciuric hypercalcemia? A retrospective study.
Journal: Surgery
Published: February 13, 2024
A novel mouse model for familial hypocalciuric hypercalcemia (FHH1) reveals PTH-dependent and independent CaSR defects.
Journal: Pflugers Archiv : European journal of physiology
Published: December 19, 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
Identification and characterization of a novel CASR mutation causing familial hypocalciuric hypercalcemia.
Journal: Frontiers in endocrinology
Published: September 08, 2023
First Report of a Family with Familial Hypocalciuric Hypercalcemia in Chile: Differential Diagnosis in a Patient with PTH-Dependent Hypercalcemia Post-Parathyroidectomy
Journal: Revista medica de Chile
Published: August 29, 2023
Last Updated: 10/31/2025