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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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Bibliografski detalji
Izdano u:Einstein (Sao Paulo)
Glavni autori: Heilberg, Ita Pfeferman, Tótoli, Cláudia, Calado, Joaquim Tomaz
Format: Artigo
Jezik:Inglês
Izdano: Instituto Israelita de Ensino e Pesquisa Albert Einstein 2015
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4878638/
https://ncbi.nlm.nih.gov/pubmed/26537508
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1679-45082015RC3013
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