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Results 1 - 2 of 2 for Severe phosphoribosylpyrophosphate synthetase superactivity
  1. ... mutations in the PRPS1 gene that cause a severe form of phosphoribosylpyrophosphate synthetase superactivity (PRS superactivity) have been identified. These mutations change ...
  2. Phosphoribosylpyrophosphate synthetase superactivity (PRS superactivity) is characterized by the overproduction and accumulation of uric acid (a waste product of normal chemical processes) ...