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Results 1 - 2 of 2 for Familial juvenile hyperuricemic nephropathy type 1
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  1. Uromodulin-associated kidney disease 
    ... kidney disease Uromodulin storage disease Genetic Testing Registry: Familial juvenile hyperuricemic nephropathy type 1 UMOD-related autosomal dominant tubulointerstitial kidney disease National ...
    https://medlineplus.gov/.../uromodulin-associated-kidney-disease - Genetics
  2. Lesch-Nyhan syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome - Genetics