The importance of molecular diagnosis in the management of autosomal dominant hypocalcemia type 1 (ADH1): Case report-Reference-Cited by-同舟云学术

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The importance of molecular diagnosis in the management of autosomal dominant hypocalcemia type 1 (ADH1): Case report

Published:2023-02 Issue:1 Volume:84 Page:88-89
ISSN:0003-4266
Container-title:Annales d'Endocrinologie
language:en
Short-container-title:Annales d'Endocrinologie

Author:

Gómez-Martín Jesús M.,Martínez-Vaello Victoria

Publisher

Elsevier BV

Subject

Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism

Reference7 articles.

1. Disorders of the calcium-sensing receptor: Familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. In: UpToDate, Post TW (Ed);Mannstadt,2021

2. Hypoparathyroidism. In: UpToDate, Post TW (Ed);Goltzman,2021

3. The calcium-sensing receptor promotes urinary acidification to prevent nephrolithiasis;Renkema;J Am Soc Nephrol,2009

4. Autosomal dominant hypocalcemia (Hypoparathyroidism) Types 1 and 2;Roszko;Front Physiol,2016

5. A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia;Uçkun-Kitapçi;Am J Med Genet A,2005

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