{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T14:31:51Z","timestamp":1791210711066,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[1995,10,12]],"date-time":"1995-10-12T00:00:00Z","timestamp":813456000000},"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":[[1996,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>4\u2010Methylumbelliferyl\u2010<jats:italic>\u03b1<\/jats:italic>\u2010<jats:sc>d<\/jats:sc>\u2010<jats:italic>N<\/jats:italic>\u2010sulphoglucosaminide (MU\u2010<jats:italic>\u03b1<\/jats:italic>\u2010GlcNS) was synthesized and shown to be a substrate for the lysosomal heparin sulphamidase. Sanfilippo A patients' fibroblasts (<jats:italic>n<\/jats:italic>=42) and lymphocytes (<jats:italic>n<\/jats:italic>=1) showed 0\u20133% of mean normal heparin sulphamidase activity; in total leukocytes from patients (<jats:italic>n<\/jats:italic>=8) sulphamidase activity was clearly deficient. In fibroblasts from obligate heterozygotes for Sanfilippo A, the sulphamidase activity was reduced in 9 out of 10 cases. Heparin sulphamidase desulphates MU\u2010<jats:italic>\u03b1<\/jats:italic>GlcNS to MU\u2010<jats:italic>\u03b1<\/jats:italic>GlcNH<jats:sub>2<\/jats:sub> and further hydrolysis during a second incubation is required to liberate 4\u2010methylumbelliferone, which can be measured. Yeast<jats:italic>\u03b1<\/jats:italic>\u2010glucosidase, which has low but sufficient<jats:italic>\u03b1<\/jats:italic>\u2010glucosaminidase activity, was used to hydrolyse the reaction intermediate MU\u2010<jats:italic>\u03b1<\/jats:italic>GlcNH<jats:sub>2<\/jats:sub> to release 4\u2010methylumbelliferone and free glucosamine.<\/jats:p>","DOI":"10.1007\/bf01799255","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:33:12Z","timestamp":1119371592000},"page":"278-285","source":"Crossref","is-referenced-by-count":122,"title":["A fluorimetric enzyme assay for the diagnosis of sanfilippo disease type A (MPS IIIA)"],"prefix":"10.1002","volume":"19","author":[{"given":"E. A.","family":"Karpova","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Erasmus University  PO Box 1738 Rotterdam 3000 DR The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya. 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V.","family":"Tsvetkova","sequence":"additional","affiliation":[{"name":"Institute of Biomedical Chemistry  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O. P.","family":"van Diggelen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University  PO Box 1738 Rotterdam 3000 DR The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1995,10,12]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2340083"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1042\/cs0610729"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(81)90268-0"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(82)90168-1"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(73)90807-3"},{"key":"e_1_2_1_7_1","first-page":"2465","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Neufeld EF","year":"1995"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(90)90339-T"},{"key":"e_1_2_1_9_1","first-page":"1251","article-title":"2\u2010Deoxy\u20102\u2010trifluoroacetamido\u2010\u03b2\u2010D\u2010glucopyranosyl fluoride in the synthesis of fluorogenic\u03b1\u2010 and\u03b2\u2010N\u2010acetylglucosaminides","volume":"17","author":"Voznyi Ya V","year":"1991","journal-title":"Bioorganicheskaya Khimia"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00710299"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(77)90126-7"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799255","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T12:51:05Z","timestamp":1694782265000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01799255"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,10,12]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1996,5]]}},"alternative-id":["10.1007\/BF01799255"],"URL":"https:\/\/doi.org\/10.1007\/bf01799255","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,10,12]]}}}