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Article

[Complete and partial deficiency of HPRT].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1996

Ogasawara N

Abstract excerpt

The Lesch-Nyhan syndrome results from a complete or virtually complete deficiency of the purine salvage enzyme, hypoxanthine guanine phosphoribosyl transferase (HPRT). The disease is characterized by hyperuricemia, choreoathetosis, spasticity, compulsive self-mutilation, and mental retardation. P...

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PMID: 8976112

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8976112-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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[Complete and partial deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].Semantic proximity Read ↗

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations.Semantic proximity Read ↗

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A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.Semantic proximity Read ↗

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