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Last Updated: 01/07/2026
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Found 186 publications
Clinical variation in Lowe syndrome: what and how?
Journal: Frontiers in cell and developmental biology
Published: October 08, 2025
Bioinformatics analysis of a CLCN5 geneframeshift mutation in a patient with Dent disease.
Journal: Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
Published: September 08, 2025
Unprecedented coexistence of Dent's disease type 1 and Wilson's disease in a two-year-old Chinese boy: implications for precision medicine.
Journal: BMC nephrology
Published: September 05, 2025
Clinical and genetic analysis of a patient with Dent disease due to hemizygous variant of the CLCN5 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: June 24, 2025
Phenotype and genotype analyses of 21 Chinese patients with Dent disease.
Journal: Journal of biomedical research
Published: May 27, 2025
Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay.
Journal: BMC medical genomics
Published: May 25, 2025
Genetic and clinical phenotype of Dent disease in Chinese children and the etiological analysis of early - onset chronic kidney disease.
Journal: Italian journal of pediatrics
Published: March 26, 2025
Clinical features and genetic analysis of nine Chinese children with Dent disease and identification of three novel CLCN5 and OCRL variants.
Journal: Renal failure
Published: March 25, 2025
Empagliflozin does not prevent progression of Dent's disease type 1 in a mouse model.
Journal: Experimental physiology
Published: March 09, 2025
Tubular proteinuria due to hereditary endocytic receptor disorder of the proximal tubule: Dent disease and chronic benign proteinuria.
Journal: Pediatric nephrology (Berlin, Germany)
Published: December 21, 2024
Molecular simulations meet personalized medicine: The mechanism of action of CLC-5 antiporter and the origin of Dent's disease.
Journal: PNAS nexus
Published: November 21, 2024
Pediatric Dent disease presenting with rickets and end-stage renal disease: case report and literature review.
Journal: The Journal of international medical research
Published: September 27, 2024
Last Updated: 01/07/2026