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Results 1 - 4 of 4 for Familial juvenile hyperuricemic nephropathy type 1
  1. ... kidney disease Uromodulin storage disease Genetic Testing Registry: Familial juvenile hyperuricemic nephropathy type 1 UMOD-related autosomal dominant tubulointerstitial kidney disease National ...
  2. ... disease MUC1 gene -- causes ADTKD- MUC1 , or mucin-1 kidney disease REN gene -- causes ADTKD- REN , or familial juvenile hyperuricemic nephropathy type 2 (FJHN2) HNF1B gene -- causes ADTKD- HNF1B , or ...
  3. ... uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. Am J Kidney Dis. 2005 Jul;46(1):52-7. doi: 10.1053/j.ajkd.2005. ...
  4. ... instructions for making an enzyme called hypoxanthine phosphoribosyltransferase 1. This enzyme is responsible for recycling purines, a type of building block of DNA and its chemical ...