{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T11:07:30Z","timestamp":1782126450180,"version":"3.54.5"},"reference-count":9,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1993,3,1]],"date-time":"1993-03-01T00:00:00Z","timestamp":730944000000},"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":[[1993,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Both the \u03b1\u2010 and \u03b2\u2010anomers of 4\u2010methylumbelliferyl\u2010<jats:sc>D<\/jats:sc>\u2010glucosaminide were synthesized and shown to be substrates for the lysosomal acetyl\u2010CoA: glucosaminide<jats:italic>N<\/jats:italic>\u2010acetyltransferase. Using the \u03b2\u2010anomer, fibroblasts and leukocytes from 11 different Sanfilippo C patients showed &lt;1% of mean normal<jats:italic>N<\/jats:italic>\u2010acetyltransferase activity. Heterozygotes showed intermediate activities. The enzymatic liberation of the fluorochrome from 4\u2010methylumbelliferyl\u2010\u03b2\u2010<jats:sc>d<\/jats:sc>\u2010glucosaminide requires the sequential action of the<jats:italic>N<\/jats:italic>\u2010acetyltransferase and \u03b2\u2010hexosaminidase. Normal \u03b2\u2010hexosaminidase activity caused complete hydrolysis of the reaction intermediate 4\u2010methylumbelliferyl\u2010\u03b2\u2010<jats:sc>d<\/jats:sc>\u2010<jats:italic>N<\/jats:italic>\u2010acetylglucosaminide formed by the<jats:italic>N<\/jats:italic>\u2010acetyltransferase. In cell extracts with a \u03b2\u2010hexosaminidase deficiency, however, a second incubation in the presence of excess \u03b2\u2010hexosaminidase is needed to avoid underestimation of the<jats:italic>N<\/jats:italic>\u2010acetyltransferase activity.<\/jats:p>","DOI":"10.1007\/bf00710299","type":"journal-article","created":{"date-parts":[[2004,12,1]],"date-time":"2004-12-01T12:15:16Z","timestamp":1101903316000},"page":"465-472","source":"Crossref","is-referenced-by-count":45,"title":["A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C)"],"prefix":"10.1002","volume":"16","author":[{"given":"Ya. V.","family":"Voznyi","sequence":"first","affiliation":[{"name":"Institute of Biochemistry Academy of Sciences Armenian Republic  Yerevan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. 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C.","family":"Janse","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. 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