Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia
✍ Scribed by Uri S. Alon; René G. VanDeVoorde
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 107 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0931-041X
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Neonatal severe hyperparathyroidism (NSHPT) is considered an autosomalrecessive disorder, attributable in many cases to homozygous inactivating mutations of the Ca ++ -sensing receptor (CASR) gene at 3q13.3-21. Most heterozygotes are clinically asymptomatic but manifest as familial (benign) hypocalc
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