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AB130. Pseudoaldosteronism due to mutation of SCNN1A gene: a case report

BACKGROUND: Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disease characterized by resistance to the actions of aldosterone. It was first described in 1958 by Cheek and Perry, and common clinical manifestations include salt wasting, hyperkalaemia, metabolic acidosis and elevated plasma a...

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Detalhes bibliográficos
Publicado no:Ann Transl Med
Main Authors: Can, Ngoc Thi Bich, Vu, Dung Chi, Bui, Thao Phuong, Nguyen, Khanh Ngoc, Zennaro, Maria-Christina, Wudy, Stefan A.
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563464/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB130
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