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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Publicat a:J Bone Miner Res
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: 2019
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Article
Accés en línia: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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