Article
Cardiometabolic phenotyping of patients with familial hypocalcuric hypercalcemia.
The Journal of clinical endocrinology and metabolism - 1 Sept 2014
Wolf Peter, Krššák Martin, Winhofer Yvonne, Anderwald Christian-Heinz, Zwettler Elisabeth, Just Kukurová Ivica, Gessl Alois, Trattnig Siegfried, Luger Anton, Baumgartner-Parzer Sabina, Krebs Michael
Abstract excerpt
CONTEXT: Heterozygous inactivating mutations of the calcium-sensing receptor (CaSR) gene cause alterations in calcium metabolism [familial hypocalciuric hypercalcemia (FHH)]. In addition, calcium-sensing receptor is expressed in the myocardium and endocrine cells including pancreatic islets, enteroendocrine cells, and adipose tissue. OBJECTIVE: To discern whether FHH is associated with cardiometabolic alterations...
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