Disease: Familial juvenile hyperuricaemic nephropathy
- A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathy
- A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review
- Autosomal Dominant Tubulointerstitial Kidney Disease - REN
- Autosomal Dominant Tubulointerstitial Kidney Disease – <em>REN</em>
- Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report
- Autosomic Dominant Tubulo Interstitial Kidney Disease: Case Report of a New Variant of the UMOD Gene
- Familial juvenile hyperuricemia in early childhood in a boy with a novel gene mutation
- Familial juvenile hyperuricemic nephropathy 1 (FJHN1)
- Familial juvenile hyperuricemic nephropathy as rare cause of dialysis-dependent chronic kidney disease-a series of cases in two families
- From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis
- Gout as a manifestation of familial juvenile hyperuricemic nephropathy
- Hints to the diagnosis of uromodulin kidney disease
- HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout
- Hsp70 promotes maturation of uromodulin mutants that cause familial juvenile hyperuricemic nephropathy and suppresses cellular damage
- New Insights into Cystic Kidney Diseases
- Smaller caliber renal arteries are a novel feature of uromodulin-associated kidney disease
- Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia