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Treatment of Autosomal Dominant Hypocalcemia Type 1 with the Calcilytic NPSP795 (SHP635)

Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism caused by heterozygous, gain-of-function mutations of the calcium-sensing receptor gene (CAR). Individuals are hypocalcemic with inappropriately low parathyroid hormone (PTH) secretion and relative hypercalciuria. Cal...

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Detalhes bibliográficos
Publicado no:J Bone Miner Res
Main Authors: Roberts, Mary Scott, Gafni, Rachel I., Brillante, Beth, Guthrie, Lori C., Streit, Jamie, Gash, David, Gelb, Jeff, Krusinska, Eva, Brennan, Sarah C., Schepelmann, Martin, Riccardi, Daniela, Khayat, Mohd Ezuan Bin, Ward, Donald T., Nemeth, Edward F., Rosskamp, Ralf, Collins, Michael T.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6744344/
https://ncbi.nlm.nih.gov/pubmed/31063613
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.3747
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