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• Welcome
• Mailing list
• Disclaimer
• Sitemap
• About
• Contact
• Statistics
Definition
• History
• Clinical picture
  - Developmental delay
  - Crystals and stones
  - Neuromotor disability
  - Behavior 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
  - Genetics laboratories
  - Metabolism laboratories
• Checking the family
Help
• Get help!
  - Providers
• Give help!
  - Foundations
• Mailing list
Links
• Information for doctors
• Personal sites
Research
• Clinical research
  - Treatment trials!
  - Brain scans
  - Brain samples
  - Diagnostic testing
• Basic research
  - Mouse and rat
  - Cell culture
• Mutations database
  - Point mutations missense
  - Point mutations nonsense
  - Point mutations splice error
  - Deletions
  - Insertions
  - Other mutations
Treatment
• Uric acid
  - Diet and eating
• Neurological disability
• Behavior problems
  - Splints
  - Wheelchairs
• Hospital admission