{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T09:26:35Z","timestamp":1759742795528},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[1985,12,4]],"date-time":"1985-12-04T00:00:00Z","timestamp":502502400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1986,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report studies on two patients (1 and 2) with Hurler disease. They both had all of the non\u2010neurological features of Hurler disease to a similar and extreme degree and similar signs of brain damage on computed tomography. However, intellectual function was unusually well\u2010preserved in patient 1, but seriously and typically impaired in patient 2. The reason for this discrepancy has been investigated by reference to the neuropathological findings, the results of \u03b1\u2010<jats:sc>l<\/jats:sc>\u2010iduronidase assays using different substrates and comparisons to other cases (patients 3 and 4). We suggest that patient 1 is an unusual variant of the disease who may have had a very low residual \u03b1\u2010<jats:sc>l<\/jats:sc>\u2010iduronidase activity in neuronal cells only, and that this could not be demonstrated by either enzyme assays on whole brain using the 4\u2010methylumbelliferyliduronide substrate (Crow<jats:italic>et al.<\/jats:italic>, 1983) or in studies on fibroblast lysates using a radioactive disaccharide substrate.<\/jats:p>","DOI":"10.1007\/bf01799658","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:50:57Z","timestamp":1119372657000},"page":"261-272","source":"Crossref","is-referenced-by-count":15,"title":["Neuropathological and clinical correlations in hurler disease"],"prefix":"10.1002","volume":"9","author":[{"given":"R. W. E.","family":"Watts","sequence":"first","affiliation":[{"name":"Division of Inherited Metabolic Diseases MRC Clinical Research Centre  Watford Road Harrow HA1 3UJ UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Spellacy","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases MRC Clinical Research Centre  Watford Road Harrow HA1 3UJ UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Hume Adams","sequence":"additional","affiliation":[{"name":"University Department of Neuropathology Institute of Neurological Sciences, Southern General Hospital  Glasgow G51 4TF UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1985,12,4]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"320","volume-title":"Pathology of Mental Retardation","author":"Crome L.","year":"1972"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.36.4.415"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00690379"},{"key":"e_1_2_1_5_1","first-page":"237","article-title":"Mucopolysaccharidosis type V (Scheie syndrome). A postmortem study by multi\u2010disciplinary techniques with emphasis on the brain","volume":"100","author":"Dekaban A.","year":"1976","journal-title":"Arch. Pathol. Lab. Med."},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215100096250"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02338973"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1042\/cs0570265"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02222956"},{"key":"e_1_2_1_10_1","first-page":"753","article-title":"A newly recognised forme fruste of Hurler's disease (gargoylism)","volume":"53","author":"Scheie H. G.","year":"1962","journal-title":"Am. J. 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