Lesch-Nyhan.org
Official website of the Lesch-Nyhan Disease International Study Group
1.
Welkom
2.
Definitie
Geschiedenis
Klinisch beeld
Ontwikkelingsachterstand
Kristallen en stenen
Neuromotor disability
Behavioral problems
Learning disabilities
Self-injurious behavior
Other issues
Variants
Genetics
Silent carrier
HPRT gene
Biochemistry
Purines
HPRT
Uric acid
Pathogenesis
Uric acid
Kidney stones
Neurobehavioral features
3.
Diagnose
Clinical assessment
Confirmatory testing
Metabolism laboratories
Genetics laboratories
4.
Treatment
Uric acid overproduction
Diet and eating
Neurological disability
Behavior problems
Splints
Wheelchairs
Hospital admission
5.
Research
Clinical research
Treatment trials
Brain scans
Brain samples
Diagnostic testing
Basic research
Mouse and rat
Mutations database
Point mutations
Missense
Nonsense
Splice error
Deletions
Duplications
Other mutations
References
6.
Help
Get help!
Providers
Give help!
Foundations
Mailing list
7.
Links
Information for doctors
Personal sites
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