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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...
Gardado en:
| Publicado en: | Eur J Case Rep Intern Med |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
SMC Media Srl
2018
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6346954/ https://ncbi.nlm.nih.gov/pubmed/30756015 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12890/2018_000764 |
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