{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,21]],"date-time":"2024-06-21T04:31:38Z","timestamp":1718944298408},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1984,7,6]],"date-time":"1984-07-06T00:00:00Z","timestamp":457920000000},"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":[[1985,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The tritiated disulphated trisaccharide 6\u2010sulpho\u2010<jats:italic>N<\/jats:italic>\u2010acetylgalactosamine\u2010glucuronic acid\u20106\u2010sulpho\u2010<jats:italic>N<\/jats:italic>\u2010acetyl[1\u2010<jats:sup>3<\/jats:sup>H]galactosaminitol was prepared from chondroitin 6\u2010sulphate for use as a substrate for<jats:italic>N<\/jats:italic>\u2010acetylgalactosamine 6\u2010sulphate sulphatase. The reaction product was separated on ECTEOLA cellulose rather than Dowex 1\u00d72. The mean activities of normal fibroblasts, leukocytes and amniotic cells were 8.43, 2.59 and 3.14 nmol h<jats:sup>\u22121<\/jats:sup> mg protein<jats:sup>\u22121<\/jats:sup>, respectively. Fibroblasts from five patients with classical Morquio's disease (mucopolysaccharidosis IVA; MPSIVA) and one patient with neonatal multiple sulphatase deficiency displayed activities of less than 5% of control mean. Activity in amniotic cells from a pregnancy where the fetus was affected with MPS IVA was 6% of control mean. Activity was also found to be present in normal specimens of chorionic villi (mean value 1.21 nmol h<jats:sup>\u22121<\/jats:sup> mg protein<jats:sup>\u22121<\/jats:sup>), demonstrating the feasibility of first trimester prenatal diagnosis of MPS IVA by assay of activity in this tissue.<\/jats:p>","DOI":"10.1007\/bf01801671","type":"journal-article","created":{"date-parts":[[2005,6,27]],"date-time":"2005-06-27T23:55:39Z","timestamp":1119916539000},"page":"80-86","source":"Crossref","is-referenced-by-count":14,"title":["Diagnosis of classical Morquio's disease:<i>N<\/i>\u2010acetylgalactosamine 6\u2010sulphate sulphatase activity in cultured fibroblasts, leukocytes, amniotic cells and chorionic villi"],"prefix":"10.1002","volume":"8","author":[{"given":"M.","family":"Yuen","sequence":"first","affiliation":[{"name":"Paediatric Research Unit, The Prince Philip Research Laboratories Guy's Hospital Medical School  London SE1 9RT UK"},{"name":"Neonatal Screening Laboratory, Hong Kong Government Institute of Pathology Lek Yuen Health Centre, New Territories  Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. 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