Associated Papers
Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients.
Shi X et al.
Human Genomics, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Spectrum of variants in a large Chinese Gitelman syndrome cohort.
Mou L et al.
Clinical Genetics, 2023
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.
Wan ER et al.
Kidney International Reports, 2023
Clinicopathological Features of Gitelman Syndrome with Proteinuria and Renal Dysfunction.
Zhang L et al.
Nephron, 2023
Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.
Palazzo V et al.
International Journal of Molecular Sciences, 2022
Genetic and Biological Effects of SLC12A3, a Sodium-Chloride Cotransporter, in Gitelman Syndrome and Diabetic Kidney Disease.
Li N et al.
Frontiers in Genetics, 2022
Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood.
Mori T et al.
Human Mutation, 2021
Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome.
Zeng Y et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019
Diagnostic strategy for inherited hypomagnesemia.
Horinouchi T et al.
Clinical and Experimental Nephrology, 2017
Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review.
Gu X et al.
Nephrology (carlton, Vic.), 2017
Glucose tolerance and insulin responsiveness in Gitelman syndrome patients.
Yuan T et al.
Endocrine Connections, 2017
Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review.
Xia MF et al.
Clinical Case Reports, 2017
Mutation profile and treatment of Gitelman syndrome in Chinese patients.
Wang F et al.
Clinical and Experimental Nephrology, 2017
Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.
Lee JW et al.
Journal of Korean Medical Science, 2016
Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome.
Iqbal Z et al.
F1000research, 2016
Renal phosphate handling in Gitelman syndrome--the results of a case-control study.
Viganò C et al.
Pediatric Nephrology (berlin, Germany), 2013
A novel compound heterozygous mutation of Gitelman's syndrome in Japan, as diagnosed by an extraordinary response of the fractional excretion rate of chloride in the trichlormethiazide loading test.
Ueda K et al.
Internal Medicine (tokyo, Japan), 2012
Early appearance of hypokalemia in Gitelman syndrome.
Tammaro F et al.
Pediatric Nephrology (berlin, Germany), 2010
Gitelman's syndrome: towards genotype-phenotype correlations?
Riveira-Munoz E et al.
Pediatric Nephrology (berlin, Germany), 2007
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.
Syrén ML et al.
Human Mutation, 2002