{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T22:38:18Z","timestamp":1769726298691,"version":"3.49.0"},"reference-count":0,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,7,12]],"date-time":"2004-07-12T00:00:00Z","timestamp":1089590400000},"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":[[2005,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The mucopolysaccharidoses (MPS) is characterized by accumulation of glycosaminoglycans (GAGs), and mucolipidosis (ML) by accumulation of GAGs and sphingolipids. Each type of MPS accumulates specific GAGs. The lysosomal enzymes <jats:italic>N<\/jats:italic>\u2010acetylgalactosamine\u20106\u2010sulphate sulphatase and \u03b2\u2010galactosidase involve the stepwise degradation of keratan sulphate (KS). Deficiency of these enzymes results in elevation of KS levels in the body fluids and in tissues, leading to MPS IV disease. In this study, we evaluated blood and urine KS levels in types of MPS and ML other than MPS IV. Eighty\u2010five plasma samples came from MPS I (<jats:italic>n<\/jats:italic>=18), MPS II (<jats:italic>n<\/jats:italic>=28), MPS III (<jats:italic>n<\/jats:italic>=20), MPS VI (<jats:italic>n<\/jats:italic>=3), MPS VII (<jats:italic>n<\/jats:italic>=5) and ML (<jats:italic>n<\/jats:italic>=11) patients while 127 urine samples came from MPS I (<jats:italic>n<\/jats:italic>=34), MPS II (<jats:italic>n<\/jats:italic>=34), MPS III (<jats:italic>n<\/jats:italic>=32), MPS VI (<jats:italic>n<\/jats:italic>=7), MPS VII (<jats:italic>n<\/jats:italic>=9) and ML (<jats:italic>n<\/jats:italic>=11) patients. KS levels were determined using the ELISA method. Plasma KS levels varied with age in both control and patient populations. In all age groups, the mean values of plasma KS in MPS and ML patients were significantly higher than those in the age\u2010matched controls. Plasma KS values in four newborn patients were above the mean + 2SD of the age\u2010matched controls (mean, 41\u2009ng\/ml). Overall, 85.9% of individual values in non\u2010type IV MPS and ML patients were above the mean + 2SD of the age\u2010matched controls. For urine KS levels, 24.4% of individual values in patients were above the mean + 2SD of the age\u2010matched controls. In conclusion, KS in blood is elevated in each type of non\u2010type IV MPS examined, in contrast to the conventional understanding. This finding suggests that measurement of KS level provides a new diagnostic biomarker in a wide variety of mucopolysaccharidoses and mucolipidoses in addition to MPS IV.<\/jats:p>","DOI":"10.1007\/s10545-005-5673-3","type":"journal-article","created":{"date-parts":[[2005,5,4]],"date-time":"2005-05-04T09:14:17Z","timestamp":1115198057000},"page":"187-202","source":"Crossref","is-referenced-by-count":75,"title":["Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses"],"prefix":"10.1002","volume":"28","author":[{"given":"S.","family":"Tomatsu","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Cardinal Glennon Children's Hospital Saint Louis University  USA"},{"name":"Department of Pediatrics, Pediatric Research Institute Saint Louis University  3662 Park Ave. St. Louis MO 63110\u20102586 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Okamura","sequence":"additional","affiliation":[{"name":"Seikagaku Corporation  Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Maeda","sequence":"additional","affiliation":[{"name":"Seikagaku Corporation  Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Taketani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shimane Medical University  Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. V.","family":"Castrillon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cardinal Glennon Children's Hospital Saint Louis University  USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. A.","family":"Gutierrez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cardinal Glennon Children's Hospital Saint Louis University  USA"},{"name":"Institute of Inborn Errors of Metabolism Javeriana University  Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Nishioka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cardinal Glennon Children's Hospital Saint Louis University  USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. A.","family":"Fachel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cardinal Glennon Children's Hospital Saint Louis University  USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. O.","family":"Orii","sequence":"additional","affiliation":[{"name":"Edward A. Doisy Department of Biochemistry and Molecular Biology Saint Louis University School of Medicine  USA"},{"name":"Department of Pediatrics Gifu University School of Medicine  Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. H.","family":"Grubb","sequence":"additional","affiliation":[{"name":"Edward A. Doisy Department of Biochemistry and Molecular Biology Saint Louis University School of Medicine  USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Cooper","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Unit Royal Manchester Children's Hospital  UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Thornley","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Unit Royal Manchester Children's Hospital  UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Wraith","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Unit Royal Manchester Children's Hospital  UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. A.","family":"Barrera","sequence":"additional","affiliation":[{"name":"Institute of Inborn Errors of Metabolism Javeriana University  Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. S.","family":"Laybauer","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Federal University of Rio Grande do Sul  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Federal University of Rio Grande do Sul  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I. V.","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Federal University of Rio Grande do Sul  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. 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G.","family":"Kircher","sequence":"additional","affiliation":[{"name":"Institute of Medical Chemistry University of Vienna  Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Paschke","sequence":"additional","affiliation":[{"name":"Laboratory of Metabolic Diseases, Department of Pediatrics University of Graz  Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shimane Medical University  Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Ullrich","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Hamburg  Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Haskins","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine University of Pennsylvania  USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Isogai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gifu University School of Medicine  Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gifu University School of Medicine  Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Orii","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gifu University School of Medicine  Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Kondo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gifu University School of Medicine  Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Creer","sequence":"additional","affiliation":[{"name":"Department of Pathology Saint Louis University School of Medicine  USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Okuyama","sequence":"additional","affiliation":[{"name":"National Center for Child Health and Development  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Osaka City University Graduate School of Medicine  Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Noguchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shimane Medical University  Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,7,12]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-5673-3","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-5673-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T23:24:51Z","timestamp":1694820291000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-5673-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,7,12]]},"references-count":0,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,4]]}},"alternative-id":["10.1007\/s10545-005-5673-3"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-5673-3","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,7,12]]}}}