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3 articles related to "Bartters Syndrome"

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Articles

Original Research

Published on 17 Mar 2020

Functional Study of Novel Bartter’s Syndrome Mutations in ClC-Kb and Rescue by the Accessory Subunit Barttin Toward Personalized Medicine

in Renal Pharmacology

Dalila Sahbani
Bice Strumbo
Silvana Tedeschi
Elena Conte
Giulia Maria Camerino
Elisa Benetti
Giovanni Montini
Gabriella Aceto
Giuseppe Procino
Paola Imbrici

Frontiers in Pharmacology

doi 10.3389/fphar.2020.00327

5,188 views
9 citations

Case Report

Published on 01 Dec 2021

A Case Report and Literature Review of a Novel Mutation in the MAGED2 Gene of a Patient With Severe Transient Polyhydramnios

in Genetics of Common and Rare Diseases

Xiaoxia Wu
Le Huang
Caiqun Luo
Yang Liu
Jianmin Niu

Frontiers in Pediatrics

doi 10.3389/fped.2021.778814

3,617 views
8 citations

Review

Published on 23 Mar 2017

ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies

in Pharmacology of Ion Channels and Channelopathies

Diogo R. Poroca
Ryan M. Pelis
Valérie M. Chappe

Frontiers in Pharmacology

doi 10.3389/fphar.2017.00151

36,539 views
107 citations