Uromodulin storage disease
Author:
Publisher
Elsevier BV
Subject
Nephrology
Reference29 articles.
1. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy;Hart;J Med Genet,2002
2. Allelism of MCKD FJHN and GCKD caused by impairment of uromodulin export dynamics;Rampoldi;Hum Mol Genet,2003
3. A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease;Lens;Am J Kidney Dis,2005
4. Clinico-pathologic findings in medullary cystic kidney disease type 2;Bleyer;Pediatr Nephrol,2005
5. Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome;Vylet'al;Kidney Int,2006
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1. Two sides of the same coin: a complex presentation of autosomal dominant tubulointerstitial kidney diseases: a literature review and case reports;Frontiers in Pediatrics;2023-11-10
2. Unveiling the Hidden Power of Uromodulin: A Promising Potential Biomarker for Kidney Diseases;Diagnostics;2023-09-28
3. Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD;Kidney International Reports;2022-11
4. Hsp70 promotes maturation of uromodulin mutants that cause familial juvenile hyperuricemic nephropathy and suppresses cellular damage;Clinical and Experimental Nephrology;2022-02-25
5. Genetic Diseases Associated with Tubulointerstitial Nephritis;Tubulointerstitial Nephritis;2022
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