{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T03:54:38Z","timestamp":1793073278286,"version":"4.5.0"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,9,19]],"date-time":"2012-09-19T00:00:00Z","timestamp":1348012800000},"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":[[2013,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Mucopolysaccharidosis type I (MPS I) results in a defective breakdown of the glycosaminoglycans (GAGs) heparan sulfate and dermatan sulfate, which leads to a progressive disease. Enzyme replacement therapy (ERT) results in clearance of these GAGs from a range of tissues and can significantly ameliorate several symptoms. The biochemical efficacy of ERT is generally assessed by the determination of the total urinary excretion of GAGs. However, this has limitations. We studied the concentrations of heparan sulfate and dermatan sulfate derived disaccharides (HS and DS, respectively) in the plasma and urine of seven patients and compared these levels with total urinary GAGs (uGAGs) levels.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Plasma and urine samples were collected at different time points relative to the weekly ERT for three non\u2010consecutive weeks in seven MPS I patients who had been treated with ERT for at least 2.5 years. Heparan and dermatan sulfate in plasma and urine were enzymatically digested into disaccharides, and HS and DS levels were determined by HPLC\u2010MS\/MS analysis. uGAGs were measured by the DMB test.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The levels of HS and DS were markedly decreased compared with the levels before the initiation of ERT. However, the concentrations of DS in plasma and of both HS and DS in urine remained significantly elevated in all studied patients, while in six patients the level of total uGAGs had normalized. The concentrations of plasma and urinary HS during the weekly ERT followed a U\u2010shaped curve. However, the effect size is small. The concentrations of plasma and urinary DS and uGAGs appeared to be in a steady state.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>HS and DS are sensitive biomarkers for monitoring the biochemical treatment efficacy of ERT and remain elevated despite long\u2010term treatment. This finding may be related to the labeled dose or antibody status of the patient. The timing of the sample collection is not relevant, at least at the current dose of 100 IU\/kg\/weekly.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-012-9538-2","type":"journal-article","created":{"date-parts":[[2012,9,18]],"date-time":"2012-09-18T12:42:38Z","timestamp":1347972158000},"page":"247-255","source":"Crossref","is-referenced-by-count":42,"title":["Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long\u2010term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans"],"prefix":"10.1002","volume":"36","author":[{"given":"Minke H.","family":"de Ru","sequence":"first","affiliation":[{"name":"Department of Pediatrics Amsterdam Lysosome Centre \u2018Sphinx\u2019, Academic Medical Center, University Hospital of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"van der Tol","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Amsterdam Lysosome Centre \u2018Sphinx\u2019, Academic Medical Center, University Hospital of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi","family":"van Vlies","sequence":"additional","affiliation":[{"name":"Laboratory of Genetic Metabolic Diseases Amsterdam Lysosome Centre \u2018Sphinx\u2019, Academic Medical Center, University Hospital of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian W.","family":"Bigger","sequence":"additional","affiliation":[{"name":"Stem Cell &amp; Neurotherapies Group, Faculty of Medical and Human Sciences University of Manchester Manchester United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla E. M.","family":"Hollak","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology and Metabolism Amsterdam Lysosome Centre \u2018Sphinx\u2019, Academic Medical Center, University Hospital of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lodewijk","family":"IJlst","sequence":"additional","affiliation":[{"name":"Laboratory of Genetic Metabolic Diseases Amsterdam Lysosome Centre \u2018Sphinx\u2019, Academic Medical Center, University Hospital of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wim","family":"Kulik","sequence":"additional","affiliation":[{"name":"Laboratory of Genetic Metabolic Diseases Amsterdam Lysosome Centre \u2018Sphinx\u2019, Academic Medical Center, University Hospital of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henk","family":"van Lenthe","sequence":"additional","affiliation":[{"name":"Laboratory of Genetic Metabolic Diseases Amsterdam Lysosome Centre \u2018Sphinx\u2019, Academic Medical Center, University Hospital of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad A.","family":"Saif","sequence":"additional","affiliation":[{"name":"Stem Cell &amp; Neurotherapies Group, Faculty of Medical and Human Sciences University of Manchester Manchester United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Wagemans","sequence":"additional","affiliation":[{"name":"Laboratory of Genetic Metabolic Diseases Amsterdam Lysosome Centre \u2018Sphinx\u2019, Academic Medical Center, University Hospital of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Willem M.","family":"van der Wal","sequence":"additional","affiliation":[{"name":"Department of Biostatistics and Research Support Julius Center for Health Sciences and Primary Care, University of Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald J.","family":"Wanders","sequence":"additional","affiliation":[{"name":"Laboratory of Genetic Metabolic Diseases Amsterdam Lysosome Centre \u2018Sphinx\u2019, Academic Medical Center, University Hospital of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frits A.","family":"Wijburg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Amsterdam Lysosome Centre \u2018Sphinx\u2019, Academic Medical Center, University Hospital of Amsterdam Amsterdam The Netherlands"},{"name":"Department of Pediatrics, Division of Metabolic Disorders (H7\u2010270) Academic Medical Center Meibergdreef 9 Amsterdam 1105 AZ The 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