Associated Papers
Recurrent falls as the presentations of Gitelman syndrome in an octogenarian.
Sun CY et al.
Aging, 2025
Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.
Vaisbich MH et al.
Nephron, 2023
Bartter syndrome with long-term follow-up: a case report.
Wu X et al.
The Journal of International Medical Research, 2020
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
Novel compound heterozygous CLCNKB gene mutations (c.1755A>G/c.848_850delTCT) cause classic Bartter syndrome.
Wang C et al.
American Journal of Physiology. Renal Physiology, 2018
Consideration of the diagnosis of hypertension accompanied with hypokalaemia: monism or dualism?
Lü Q et al.
The Journal of International Medical Research, 2018
Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome.
Cheng CJ et al.
The Journal of Physiology, 2017
In silico model of the human ClC-Kb chloride channel: pore mapping, biostructural pathology and drug screening.
Louet M et al.
Scientific Reports, 2017
A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review.
Lü Q et al.
Journal of Endocrinological Investigation, 2016
ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.
Andrini O et al.
American Journal of Physiology. Renal Physiology, 2015
Novel CLCNKB mutations causing Bartter syndrome affect channel surface expression.
Keck M et al.
Human Mutation, 2013
Patients with biallelic mutations in the chloride channel gene CLCNKB: long-term management and outcome.
Bettinelli A et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2007
A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age.
Gorgojo JJ et al.
Hormone Research, 2006
Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter.
Lin SH et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2004
Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis.
Fukuyama S et al.
Kidney International, 2003
A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes.
Zelikovic I et al.
Kidney International, 2003
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.
Konrad M et al.
Journal of the American Society of Nephrology : Jasn, 2000