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Adult presentation of Bartter syndrome type IV with erythrocytosis
Bartter syndrome comprises a group of rare autosomal-recessive salt-losing disorders with distinct phenotypes, but one unifying pathophysiology consisting of severe reductions of sodium reabsorption caused by mutations in five genes expressed in the thick ascending limb of Henle, coupled with increa...
Autores principales: | Heilberg, Ita Pfeferman, Tótoli, Cláudia, Calado, Joaquim Tomaz |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Instituto Israelita de Ensino e Pesquisa Albert Einstein
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4878638/ https://www.ncbi.nlm.nih.gov/pubmed/26537508 http://dx.doi.org/10.1590/S1679-45082015RC3013 |
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