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      Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review.

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          Abstract

          Neonatal severe hyperparathyroidism (NSHPT) is a severe form of familial hypocalciuric hypercalcemia characterized by severe hypercalcemia and skeletal demineralization. In most cases, NSHPT is due to biallelic loss-of-function mutations in the CASR gene encoding the calcium-sensing receptor (CaSR), but some patients have heterozygous mutations. Conventional treatment consists of iv saline, bisphosphonates, and parathyroidectomy.

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          Author and article information

          Journal
          J. Clin. Endocrinol. Metab.
          The Journal of clinical endocrinology and metabolism
          1945-7197
          0021-972X
          Jan 2014
          : 99
          : 1
          Affiliations
          [1 ] Division of Endocrinology and Diabetes (A.W.G., M.A.L.), and Department of Pharmacy Services (H.M.M.), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104; and Department of Pediatrics (A.W.G., M.A.L.), University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104.
          Article
          jc.2013-2834
          10.1210/jc.2013-2834
          3879678
          24203066
          8c6a0778-bfe8-4548-b030-a870a8967016
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