{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:14:39Z","timestamp":1792804479384,"version":"4.5.0"},"reference-count":0,"publisher":"Cambridge University Press (CUP)","issue":"7","license":[{"start":{"date-parts":[[2002,1,11]],"date-time":"2002-01-11T00:00:00Z","timestamp":1010707200000},"content-version":"unspecified","delay-in-days":71,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Int Neuropsychol Soc"],"published-print":{"date-parts":[[2001,11]]},"abstract":"<jats:p>Lesch-Nyhan disease (LND) is a rare, X-linked genetic disorder \nthat involves the nearly complete absence of an enzyme \n(hypoxanthine-guanine phosphoribosyltransferase, or HPRT) that \nis essential for purine salvage. In addition to hyperuricemia, \nall patients with classic LND suffer from movement disorder \nand compulsive self-injury, and most have mental retardation. \nPatients with partial HPRT deficiency (variants) always have \nhyperuricemia and often have neurologic abnormalities, but do \nnot self-injure and usually are described as having normal \nintelligence. Here we compare 15 patients with LND to 9 variants \nand 13 normal adolescents and adults. Testing revealed unambiguous \nand qualitatively similar cognitive deficits in both patient \ngroups. The variants produced scores that were intermediate \nbetween those of patients with LND and normal participants on \nnearly every cognitive measure. We discuss these findings in \nterms of what is known about the neuropathology of LND. \n(<jats:italic>JINS<\/jats:italic>, 2001, <jats:italic>7<\/jats:italic>, 805\u2013812.)<\/jats:p>","DOI":"10.1017\/s135561770177703x","type":"journal-article","created":{"date-parts":[[2003,10,15]],"date-time":"2003-10-15T16:10:09Z","timestamp":1066234209000},"page":"805-812","source":"Crossref","is-referenced-by-count":50,"title":["Neurocognitive functioning in Lesch-Nyhan disease and partial \nhypoxanthine-guanine phosphoribosyltransferase deficiency"],"prefix":"10.1017","volume":"7","author":[{"given":"DAVID J.","family":"SCHRETLEN","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JAMES C.","family":"HARRIS","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"KAREN S.","family":"PARK","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HYDER A.","family":"JINNAH","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"NATALIA OJEDA","family":"DEL POZO","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2002,1,11]]},"container-title":["Journal of the International Neuropsychological Society"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S135561770177703X","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,2]],"date-time":"2019-09-02T16:20:07Z","timestamp":1567441207000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S135561770177703X\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,11]]},"references-count":0,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2001,11]]}},"alternative-id":["S135561770177703X"],"URL":"https:\/\/doi.org\/10.1017\/s135561770177703x","relation":{},"ISSN":["1355-6177","1469-7661"],"issn-type":[{"value":"1355-6177","type":"print"},{"value":"1469-7661","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,11]]}}}