{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T15:26:46Z","timestamp":1790350006410,"version":"4.1.0"},"reference-count":41,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,9,16]],"date-time":"2018-09-16T00:00:00Z","timestamp":1537056000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004861","name":"Mackay Memorial Hospital","doi-asserted-by":"publisher","award":["MMH\u2010101\u2010111"],"award-info":[{"award-number":["MMH\u2010101\u2010111"]}],"id":[{"id":"10.13039\/501100004861","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004861","name":"Mackay Memorial Hospital","doi-asserted-by":"publisher","award":["MMH\u2010103\u2010092"],"award-info":[{"award-number":["MMH\u2010103\u2010092"]}],"id":[{"id":"10.13039\/501100004861","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004861","name":"Mackay Memorial Hospital","doi-asserted-by":"publisher","award":["MMH\u2010107\u201082"],"award-info":[{"award-number":["MMH\u2010107\u201082"]}],"id":[{"id":"10.13039\/501100004861","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The aim of this study was to use the liquid chromatography\/tandem mass spectrometry (LC\u2010MS\/MS) method to quantitate levels of three urinary glycosaminoglycans (GAGs; dermatan sulfate [DS], heparan sulfate [HS], and keratan sulfate [KS]) to help make a correct diagnosis of mucopolysaccharidosis (MPS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We analyzed the relationships between phenotypes and levels of urinary GAGs of 79 patients with different types of MPS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patients with mental retardation (<jats:italic>n<\/jats:italic>\u00a0=\u00a021) had significantly higher levels of HS than those without mental retardation (<jats:italic>n<\/jats:italic>\u00a0=\u00a058; 328.8 vs. 3.2\u00a0\u03bcg\/ml, <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.001). The DS levels in the patients with hernia, hepatosplenomegaly, claw hands, coarse face, valvular heart disease, and joint stiffness were higher than those without. Twenty patients received enzyme replacement therapy (ERT) for 1\u201312.3\u00a0years. After ERT, the KS level decreased by 90% in the patients with MPS IVA compared to a 31% decrease in the change of dimethylmethylene blue (DMB) ratio. The DS level decreased by 79% after ERT in the patients with MPS VI compared to a 66% decrease in the change of DMB ratio.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The measurement of GAG fractionation biomarkers using the LC\u2010MS\/MS method is a more sensitive and reliable tool than the DMB ratio for MPS high\u2010risk screening, diagnosis, subclass identification, and monitoring the efficacy of ERT.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.471","type":"journal-article","created":{"date-parts":[[2018,9,17]],"date-time":"2018-09-17T00:54:11Z","timestamp":1537145651000},"page":"982-992","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9619-0990","authenticated-orcid":false,"given":"Hsiang\u2010Yu","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Medicine Mackay Medical College New Taipei City Taiwan"},{"name":"Department of Pediatrics Mackay Memorial Hospital Taipei Taiwan"},{"name":"Department of Medical Research Mackay Memorial Hospital Taipei Taiwan"},{"name":"Mackay Junior College of Medicine, Nursing and Management Taipei Taiwan"},{"name":"Department of Medical Research China Medical University Hospital, China Medical University Taichung Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chung\u2010Lin","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Mackay Memorial Hospital Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun\u2010Ting","family":"Lo","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Mackay Memorial Hospital Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuan\u2010Jen","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Mackay Memorial Hospital Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung\u2010Fa","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Mackay Memorial Hospital Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tzu\u2010Lin","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Mackay Memorial Hospital Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu\u2010Shan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Research Mackay Memorial Hospital Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dau\u2010Ming","family":"Niu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Taipei Veterans General Hospital Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chih\u2010Kuang","family":"Chuang","sequence":"additional","affiliation":[{"name":"Department of Medical Research Mackay Memorial Hospital Taipei Taiwan"},{"name":"College of Medicine Fu\u2010Jen Catholic University Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuan\u2010Pei","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Medicine Mackay Medical College New Taipei City Taiwan"},{"name":"Department of Pediatrics Mackay Memorial Hospital Taipei Taiwan"},{"name":"Department of Medical Research Mackay Memorial Hospital Taipei Taiwan"},{"name":"Department of Infant and Child Care National Taipei University of Nursing and Health Sciences Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,9,16]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.09.003"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.aca.2016.06.054"},{"key":"e_1_2_10_4_1","first-page":"1","volume-title":"Neurochemistry of metabolic diseases\u2010lysosomal storage diseases, phenylketonuria and canavan disease","author":"Chuang C. K.","year":"2007"},{"key":"e_1_2_10_5_1","first-page":"15","article-title":"Diagnostic screening for mucopolysaccharidoses by the dimethylmethylene blue method and two dimensional electrophoresis","volume":"64","author":"Chuang C. K.","year":"2001","journal-title":"Zhonghua Yi Xue Za Zhi (Taipei)"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcla.10051"},{"key":"e_1_2_10_7_1","first-page":"20","article-title":"Keratanase II digestion accompanied with a liquid chromatography\/tandem mass spectrometry for urinary keratan sulfate quantitative analysis","volume":"3","author":"Chuang C. K.","year":"2017","journal-title":"Journal of Mucopolysaccharidosis Rare Diseases"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0135-3"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/471325"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9538-2"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1517\/14728214.2016.1123690"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2011.06.097"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.04.001"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.12.014"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.2741\/4490"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.02.006"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36833"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9715-6"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.05.018"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1119-7"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.09.005"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9212-5"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.21309"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-21"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0471-6"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2016.04.003"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0211-x"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.02.009"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-71"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.02.003"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.22774"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.4155\/bio.11.172"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2016.03.009"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.01.052"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/ker394"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000232477.37660.fb"},{"key":"e_1_2_10_37_1","first-page":"3421","volume-title":"The metabolic and molecular bases of inherited disease","author":"Neufield","year":"2001"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/bmc.760"},{"key":"e_1_2_10_39_1","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1093\/clinchem\/39.1.163","article-title":"Pitfalls of screening for mucopolysaccharidoses by the dimethylmethylene blue test","volume":"39","author":"Piraud M.","year":"1993","journal-title":"Clinical Chemistry"},{"key":"e_1_2_10_40_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0069-y"},{"key":"e_1_2_10_41_1","doi-asserted-by":"publisher","DOI":"10.3390\/metabo4030655"},{"key":"e_1_2_10_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.01.046"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.471","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.471","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T23:28:12Z","timestamp":1694820492000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.471"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9,16]]},"references-count":41,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,11]]}},"alternative-id":["10.1002\/mgg3.471"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.471","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,9,16]]},"assertion":[{"value":"2018-07-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-08-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-09-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}