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Article

Dopamine function in Lesch-Nyhan disease.

Environmental health perspectives - 1 Jun 2000

Nyhan W L

Abstract excerpt

Lesch-Nyhan disease is a disorder of purine metabolism resulting from mutations in the gene for hypoxanthine guanine phosphoribosyl transferase on the X chromosome. It is characterized by hyperuricemia and all of its consequences, as in gout; but in addition, patients have impressive disease of the central nervous system. This includes spasticity, involuntary movements, and retardation of motor development. The...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 10852837
DOI: 10.1289/ehp.00108s3409
PMCID: PMC1637829

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Source receipt: pubmed, retrieved 7 Sept 2026.

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