{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T13:30:48Z","timestamp":1780061448729,"version":"3.54.0"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[1993,3,29]],"date-time":"1993-03-29T00:00:00Z","timestamp":733363200000},"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":[[1993,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>4\u2010Methylumbelliferyl\u2010\u03b1\u2010<jats:italic>N<\/jats:italic>\u2010acetylglucosamine 6\u2010sulphate was synthesized and shown to be a substrate for the lysosomal<jats:italic>N<\/jats:italic>\u2010acetylglucosamine\u20106\u2010sulphate sulphatase (GlcNAc\u20106S sulphatase). Fibroblasts and leukocytes from 3 different Sanfilippo D patients showed &lt;1% of mean normal GlcNAc\u20106S sulphatase activity. The enzymatic liberation of the fluorochrome from 4\u2010methyl\u2010umbelliferyl\u2010\u03b1\u2010<jats:italic>N<\/jats:italic>\u2010acetylglucosamine 6\u2010sulphate requires the sequential action of the GlcNAc\u20106S sulphatase and \u03b1\u2010<jats:italic>N<\/jats:italic>\u2010acetylglucosaminidase. A normal level of \u03b1\u2010<jats:italic>N<\/jats:italic>\u2010acetylglucosaminidase activity was insufficient to complete the hydrolysis of the reaction intermediate 4\u2010methylumbelliferyl\u2010\u03b1\u2010<jats:italic>N<\/jats:italic>\u2010acetylgluco\u2010saminide formed by the GlcNAc\u20106S sulphatase. A second incubation in the presence of excess \u03b1\u2010<jats:italic>N<\/jats:italic>\u2010acetyglucosaminidase is needed to avoid underestimation of the GlcNAc\u20106S sulphatase activity.<\/jats:p>","DOI":"10.1007\/bf00711508","type":"journal-article","created":{"date-parts":[[2004,11,30]],"date-time":"2004-11-30T08:47:37Z","timestamp":1101804457000},"page":"935-941","source":"Crossref","is-referenced-by-count":41,"title":["A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID)"],"prefix":"10.1002","volume":"16","author":[{"given":"Wang","family":"He","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Erasmus University, Rotterdam  P.O. Box 1738 Rotterdam 3000 DR The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya. V.","family":"Voznyi","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry Academy of Sciences Armenian Republic  Yerevan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. M.","family":"Boer","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University, Rotterdam  P.O. Box 1738 Rotterdam 3000 DR The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. J.","family":"Kleijer","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University, Rotterdam  P.O. Box 1738 Rotterdam 3000 DR The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O. P.","family":"van Diggelen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University, Rotterdam  P.O. Box 1738 Rotterdam 3000 DR The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1993,3,29]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)34181-9"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441662"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2820605"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441147"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80171-3"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.77.11.6822"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799827"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198911000-00020"},{"key":"e_1_2_1_10_1","first-page":"1565","volume-title":"The Metabolic Basis of Inherited Disease","author":"Neufeld EF","year":"1989"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.6.402"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(90)90339-T"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(82)90911-1"},{"key":"e_1_2_1_14_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":"iBoorganicheskaya Khimia"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00710299"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0008-6215(91)84026-B"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00711508","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T18:17:51Z","timestamp":1694801871000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF00711508"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,3,29]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1993,11]]}},"alternative-id":["10.1007\/BF00711508"],"URL":"https:\/\/doi.org\/10.1007\/bf00711508","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,3,29]]}}}