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© HAJ & JEV 2006-2026
Home
Definition
History
Clinical picture
Genetics
Biochemistry
Pathogenesis
Diagnosis
Clinical assessment
Confirmatory testing
Checking the family
Treatment
Uric acid overproduction
Neurological disability
Behavior problems
Hospital admission
Research
Clinical research
Basic research
Mutations database
Point mutations
Missense
Nonsense
Splice error
Deletions
Duplications
Other mutations
References
Help
Get help!
Providers
Give help!
Foundations
Mailing list
Links
Information for doctors
Personal sites
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© HAJ & JEV 2006-2026