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Article

The diagnosis of HPRT deficiency in the 21st century.

Nucleosides, nucleotides & nucleic acids - 1 Jun 2008

Torres R J, Puig J G

Abstract excerpt

We have studied 36 patients with HPRT deficiency, 25 with Lesch-Nyhan syndrome and 11 with partial HPRT deficiency (grades 1 to 3). Patients diagnosed with HPRT deficiency have increased 50% since 2000. The most relevant recent advances have been made in molecular diagnosis. Nevertheless, enzyme determinations are still essential for the diagnosis of HPRT deficiency. Therapy for the neurological manifestations of...

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Identifiers

PMID: 18600505
DOI: 10.1080/15257770802135778

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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