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Osteomalacia in a Case of Adult-Onset Bartter Syndrome
Bartter syndrome is a rare heterogeneous disease characterised by a deficiency in sodium and chloride absorption. Gain-of-function mutations in the CASR gene have been described in some patients with Bartter syndrome associated with hypocalcaemia and hypercalciuria. We describe a case of adult-onset...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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SMC Media Srl
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346954/ https://www.ncbi.nlm.nih.gov/pubmed/30756015 http://dx.doi.org/10.12890/2018_000764 |