Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation-Reference-Cited by-同舟云学术

Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation

Published:2018-10-30 Issue:1 Volume:18 Page:
ISSN:1471-2431
Container-title:BMC Pediatrics
language:en
Short-container-title:BMC Pediatr

Author:

Capozza Manuela^ORCID,Chinellato Iolanda,Guarnieri Vito,Di lorgi Natascia,Accadia Maria,Traggiai Cristina,Mattioli Girolamo,Di Mauro Antonio,Laforgia Nicola

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1186/s12887-018-1319-0.pdf

Reference25 articles.

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2. Ward DT. Calcium receptor-mediated intracellular signalling. Cell Calcium. 2004;35:217–28.

3. Hendy GN, D’Souza-Li L, Yang B, Canaff L, Cole DE. Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat. 2000;16:281–96.

4. Lu JYL, Yang Y, Gnacadja G, Christopoulos A, Reagan JD. Effect of the calcimimetic R-568 [3-(2-chlorophenyl)-N-((1R)-1-(3-methoxyphenyl) ethyl)-1-propanamine] on correcting inactivating mutations in the human calcium-sensing receptor. J Pharmacol Exp Ther. 2009;331:775–86.

5. Chen RA, Goodman WG. Role of the calcium-sensing receptor in parathyroid gland physiology. Am J Physiol Renal Physiol. 2004;286:F1005–11.

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