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  • Definition
    • History
    • Clinical picture
      • Developmental delay
      • Crystals and stones
      • Neuromotor disability
      • Behavioral problems
      • Learning disability
      • Self-injurious behavior
      • Other issues
      • Variants
    • Genetics
      • Silent carrier
      • HPRT gene
    • Biochemistry
      • Purines
      • HPRT
      • Uric acid
    • Pathogenesis
      • Uric acid
      • Kidney stones
      • Neurobehavioral features
  • Diagnosis
    • Clinical assessment
    • Confirmatory testing
      • Metabolism laboratories
      • Genetics laboratories
    • Checking the family
  • Treatment
    • Uric acid
      • Diet and eating
    • Neurological disability
    • Behavior problems
      • Splints
      • Wheelchairs
    • Hospital admission
  • Research
    • Clinical research
      • Treatment trials
      • Brain scans
      • Brain samples
      • Diagnostic testing
    • Basic research
      • Mouse and rat
      • Cell cuture
    • Mutations database
      • Point mutations
        • Missense
        • Nonsense
        • Splice error
      • Deletions
      • Duplications
      • Other mutations
      • References
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