{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:27:37Z","timestamp":1777868857387,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T00:00:00Z","timestamp":1502409600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T00:00:00Z","timestamp":1502409600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Enzyme"],"abstract":"<jats:p>Hypoxanthine-guanine phosphoribosyltransferase (HPRT; IMP: pyrophosphate\nphosphoribosyltransferase, EC 2.4.2.8) functions in the purine-metabolic salvage pathway.\nTwo clinical syndromes are associated with a deficiency in HPRT enzyme activity. Virtually\ncomplete deficiency leads to the Lesch-Nyhan syndrome, whereas partial deficiency results\nin hyperuricemia and severe gouty arthritis. Marked heterogeneity in the mutations leading\nto HPRT deficiency has been found. Mutant enzymes vary with respect to levels of HPRT\nimmunoreactive protein, electrophoretic migration, kinetic properties and amino acid\nsequence. Analysis of DNA and RNA from patients with HPRT deficiency has revealed\npoint mutations, an internal gene duplication and partial as well as complete gene deletions\naccounting for the various HPRT mutant enzymes.<\/jats:p>","DOI":"10.1159\/000469188","type":"journal-article","created":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T17:22:23Z","timestamp":1502472143000},"page":"36-44","source":"Crossref","is-referenced-by-count":3,"title":["Genetic Analysis of Human Hypoxanthine-Guanine\nPhosphoribosyltransferase Deficiency"],"prefix":"10.1159","author":[{"given":"Larry J.","family":"Silverman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William N.","family":"Kelley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas D.","family":"Palella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2017,8,11]]},"container-title":["Enzyme"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000469188","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:47:18Z","timestamp":1777553238000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000469188"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,11]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000469188","archive":["Portico"],"relation":{},"ISSN":["0013-9432","2504-2564"],"issn-type":[{"value":"0013-9432","type":"print"},{"value":"2504-2564","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,11]]}}}