Associated Papers
Bartter Syndrome Presenting as Arginine-Vasopressin Resistance: A Report of 2 Cases.
Sousa M et al.
The American Journal of Case Reports, 2024
Recurrent transient severe hypocalcaemia in two siblings with type 1 Bartter syndrome.
Kanda J et al.
Nephrology (carlton, Vic.), 2024
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S et al.
Nature Medicine, 2023
37291213 (PubMed )
Supplement: 41591_2023_2401_MOESM1_ESM.pdf
Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.
Bahl S et al.
Orphanet Journal of Rare Diseases, 2020
33267903 (PubMed )
Supplement: 13023_2020_1617_MOESM1_ESM.docx
Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus.
Vergine G et al.
Case Reports in Pediatrics, 2018
Genetic heterogeneity in patients with Bartter syndrome type 1.
Sun M et al.
Molecular Medicine Reports, 2017
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.
Vargas-Poussou R et al.
American Journal of Human Genetics, 1998
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