Dent Disease Latest Advances

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Last Updated: 09/26/2026

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Found 199 publications

Reply to Shah, "Limitations in assessing genotype-phenotype correlations in pediatric Dent disease".

Reply to Shah, "Limitations in assessing genotype-phenotype correlations in pediatric Dent disease".

Journal: Pediatric nephrology (Berlin, Germany)
Published: July 09, 2026

Coexistence of a Novel OCRL Variant and a Pathogenic 16p11.2 Deletion in a Patient with Renal and Neurodevelopmental Manifestations Suggestive of Atypical Dent Disease Type 2-A Case Report.

Coexistence of a Novel OCRL Variant and a Pathogenic 16p11.2 Deletion in a Patient with Renal and Neurodevelopmental Manifestations Suggestive of Atypical Dent Disease Type 2-A Case Report.

Journal: Journal of clinical medicine
Published: May 25, 2026

Limitations in assessing genotype-phenotype correlations in pediatric dent disease.

Limitations in assessing genotype-phenotype correlations in pediatric dent disease.

Journal: Pediatric nephrology (Berlin, Germany)
Published: April 19, 2026

Dent Disease 1 Associated with a Rare Novel Renal Chloride Channel 5 Variant in a Chinese Family.

Dent Disease 1 Associated with a Rare Novel Renal Chloride Channel 5 Variant in a Chinese Family.

Journal: DNA and cell biology
Published: April 06, 2026

Sulfate handling in proximal renal tubular defects: an exploratory study.

Sulfate handling in proximal renal tubular defects: an exploratory study.

Journal: Pediatric nephrology (Berlin, Germany)
Published: February 18, 2026

The Missense Mutant ClC-5 (E211A), associated with Proton/Chloride Uncoupling Exacerbates Renal Pathology Compared to the ClC-5 null Mutant.

The Missense Mutant ClC-5 (E211A), associated with Proton/Chloride Uncoupling Exacerbates Renal Pathology Compared to the ClC-5 null Mutant.

Journal: Kidney360
Published: January 30, 2026

Clinical characteristics and genetic analyses of Korean children with Dent disease.

Clinical characteristics and genetic analyses of Korean children with Dent disease.

Journal: Pediatric nephrology (Berlin, Germany)
Published: November 05, 2025

Database of CLCN5 Pathogenic Variants Causing Dent Disease.

Database of CLCN5 Pathogenic Variants Causing Dent Disease.

Journal: Kidney international reports
Published: November 04, 2025

Clinical variation in Lowe syndrome: what and how?

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.

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.

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

The Significance of Fibroblast Growth Factor 23 and 24,25-Dihydroxyvitamin D in Dent Disease Type 1.

The Significance of Fibroblast Growth Factor 23 and 24,25-Dihydroxyvitamin D in Dent Disease Type 1.

Journal: Clinical journal of the American Society of Nephrology : CJASN
Published: August 04, 2025
Showing 1-12 of 199

Last Updated: 09/26/2026