{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T03:10:04Z","timestamp":1768446604202,"version":"3.49.0"},"reference-count":0,"publisher":"Portland Press Ltd.","issue":"3","content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[1979,9,1]]},"abstract":"<jats:p>1. Homogenates of cultured skin fibroblasts derived from patients with \u03b1-l-iduronidase-deficiency disorders (Hurler and Scheie syndromes) were capable of hydrolysing iduronosyl anhydro-[l-3H]mannitol 6-sulphate although at considerably reduced rates compared with normal controls.<\/jats:p>\n               <jats:p>2. The Vmax. values of \u03b1-l-iduronidase from patients with Hurler or Scheie syndromes and from normal controls were 11, 12 and 833 pmol min\u22121 mg\u22121 of protein respectively; the corresponding apparent Km values were 656, 50 and 53 \u03bcmol\/l respectively. The \u03b1-l-iduronidases from normal and Scheie fibroblast homogenates were shown to exhibit pH optima at 3\u00b76 and 4\u00b71 and were competitively inhibited by both chloride and sulphate ions: Hurler \u03b1-l-iduronidase activity exhibited one pH optimum at 3\u00b78 and was also inhibited by chloride and to a lesser extent by sulphate ions.<\/jats:p>\n               <jats:p>3. The thermal stability of Hurler, Scheie and normal \u03b1-l-iduronidase activities at 55\u00b0C gave half-lives of approximately 1\u00b70, 2\u00b75 and 1\u00b70 h respectively.<\/jats:p>\n               <jats:p>4. These biochemical findings clearly demonstrate enzyme differences for these two clinically distinct phenotypes and provide biochemical evidence that the Hurler and Scheie syndromes result from different allelic mutations.<\/jats:p>","DOI":"10.1042\/cs0570265","type":"journal-article","created":{"date-parts":[[2015,8,7]],"date-time":"2015-08-07T10:36:07Z","timestamp":1438943767000},"page":"265-272","update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":43,"title":["Biochemical Discrimination of Hurler and Scheie Syndromes"],"prefix":"10.1042","volume":"57","author":[{"given":"J. J.","family":"Hopwood","sequence":"first","affiliation":[{"name":"Department of Chemical Pathology, The Adelaide Children's Hospital Inc., North Adelaide, South Australia, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivienne","family":"Muller","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology, The Adelaide Children's Hospital Inc., North Adelaide, South Australia, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"288","container-title":["Clinical Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/portlandpress.com\/clinsci\/article-pdf\/57\/3\/265\/453929\/cs0570265.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/portlandpress.com\/clinsci\/article-pdf\/57\/3\/265\/453929\/cs0570265.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,2]],"date-time":"2021-12-02T20:48:51Z","timestamp":1638478131000},"score":1,"resource":{"primary":{"URL":"https:\/\/portlandpress.com\/clinsci\/article\/57\/3\/265\/74741\/Biochemical-Discrimination-of-Hurler-and-Scheie"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,9,1]]},"references-count":0,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1979,9,1]]}},"URL":"https:\/\/doi.org\/10.1042\/cs0570265","relation":{},"ISSN":["0143-5221","1470-8736"],"issn-type":[{"value":"0143-5221","type":"print"},{"value":"1470-8736","type":"electronic"}],"subject":[],"published":{"date-parts":[[1979,9,1]]}}}