{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:28:02Z","timestamp":1777868882708,"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>In the present study, hypoxanthine phosphoribosyltransferase (HPRT) has been\ninvestigated in fibroblasts of 19 patients from 16 different families with HPRT deficiency,\nconcerning activity, incorporation of 14C-hypoxanthine, and growth in 8-azaguanine and\nHAT (hypoxanthine, azaserine, thymidine containing) selection media. According to these\ndata we could classify the patients into 5 groups (patients with classical Lesch-Nyhan syndrome\nand patients with HPRT variants of types A, B, C, D). In 3 groups (patients with classical\nLesch-Nyhan syndrome, HPRT variants C and D), a correlation of residual HPRT activity\nwith the incorporation of 14C-hypoxanthine as well as growth in 8-azaguanine and HAT selection\nwas observed. The variant A, from a patient with the classical Lesch-Nyhan syndrome,\nexhibited higher HPRT activity than that from all the other patients with the Lesch-Nyhan\nsyndrome. However, the values of hypoxanthine incorporation and growth in selection media\nwere as in the classical syndrome. The cells of variant B were resistant to azaguanine and grew\nin HAT selection media in the range of control cells, but had HPRT residual activities similar\nto those of variants A and C. For the characterization of the genetic heterogeneity of HPRT, it\nseems necessary to study the enzymatic properties in cell extracts as well as the purine uptake\nand proliferation of cells in different selection media.<\/jats:p>","DOI":"10.1159\/000469485","type":"journal-article","created":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T17:23:04Z","timestamp":1502472184000},"page":"241-247","source":"Crossref","is-referenced-by-count":4,"title":["Studies in Fibroblasts of Patients with the Lesch-Nyhan\nSyndrome and HPRT Variants"],"prefix":"10.1159","author":[{"given":"I.","family":"Willers","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Singh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.W.","family":"Goedde","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\/000469485","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:49:08Z","timestamp":1777553348000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000469485"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,11]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000469485","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]]}}}