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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...

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Detalles Bibliográficos
Autores principales: Heilberg, Ita Pfeferman, Tótoli, Cláudia, Calado, Joaquim Tomaz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Instituto Israelita de Ensino e Pesquisa Albert Einstein 2015
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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