{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T22:57:16Z","timestamp":1781650636254,"version":"3.54.5"},"reference-count":61,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2018,5,25]],"date-time":"2018-05-25T00:00:00Z","timestamp":1527206400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1186\/s13023-018-0816-4","type":"journal-article","created":{"date-parts":[[2018,5,25]],"date-time":"2018-05-25T13:55:42Z","timestamp":1527256542000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":61,"title":["Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan"],"prefix":"10.1186","volume":"13","author":[{"given":"Chih-Kuang","family":"Chuang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsiang-Yu","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuan-Jen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"You-Hsin","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min-Ju","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsuan-Chieh","family":"Liao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun-Ting","family":"Lo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Yun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ru-Yi","family":"Tu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Ya","family":"Fang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tzu-Lin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui-Chen","family":"Ho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuan-Chi","family":"Chiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuan-Pei","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,5,25]]},"reference":[{"issue":"2","key":"816_CR1","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1016\/S0957-5839(97)80195-9","volume":"7","author":"GTN Besley","year":"1997","unstructured":"Besley GTN, Wraith JE. Lysosomal disorders. Curr Paediatr. 1997;7(2):128\u201334.","journal-title":"Curr Paediatr"},{"issue":"2","key":"816_CR2","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1016\/S0957-5839(96)80065-0","volume":"6","author":"JE Wraith","year":"1996","unstructured":"Wraith JE. Mucopolysaccharidoses. Curr Paediatr. 1996;6(2):74\u20139.","journal-title":"Curr Paediatr"},{"key":"816_CR3","doi-asserted-by":"publisher","unstructured":"Neufeld E, Muenzer J. The mucopolysaccharidoses. In Valle D, Beaudet L, Vogelstein B, et al. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill Global Education Holdings. 2001.\u00a0\n                    https:\/\/doi.org\/10.1036\/ommbid.165\n                    \n                  .","DOI":"10.1036\/ommbid.165"},{"key":"816_CR4","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1186\/1750-1172-9-21","volume":"9","author":"HY Lin","year":"2014","unstructured":"Lin HY, Chuang CK, Chen MR, et al. Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA. Orphanet J Rare Dis. 2014;9:21.","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"816_CR5","doi-asserted-by":"publisher","first-page":"960","DOI":"10.1002\/ajmg.a.32781","volume":"149A","author":"HY Lin","year":"2009","unstructured":"Lin HY, Lin SP, Chuang CK, et al. Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004. Am J Med Genet A. 2009;149A(5):960\u20134.","journal-title":"Am J Med Genet A"},{"issue":"3","key":"816_CR6","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1007\/s004390050641","volume":"101","author":"J Nelson","year":"1997","unstructured":"Nelson J. Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet. 1997;101(3):355\u20138.","journal-title":"Hum Genet"},{"issue":"6","key":"816_CR7","doi-asserted-by":"publisher","first-page":"1011","DOI":"10.1007\/s10545-005-0112-z","volume":"28","author":"F Baehner","year":"2005","unstructured":"Baehner F, Schmiedeskamp C, Krummenauer F, et al. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis. 2005;28(6):1011\u20137.","journal-title":"J Inherit Metab Dis"},{"issue":"2","key":"816_CR8","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1007\/s13353-014-0262-5","volume":"56","author":"A Jurecka","year":"2015","unstructured":"Jurecka A, Lugowska A, Golda A, et al. Prevalence rates of mucopolysaccharidoses in Poland. J Appl Genet. 2015;56(2):205\u201310.","journal-title":"J Appl Genet"},{"key":"816_CR9","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1016\/j.ymgmr.2014.04.001","volume":"1","author":"P Patel","year":"2014","unstructured":"Patel P, Suzuki Y, Tanaka A, et al. Impact of enzyme replacement therapy and hematopoietic stem cell therapy on growth in patients with hunter syndrome. Mol Genet Metab Rep. 2014;1:184\u201396.","journal-title":"Mol Genet Metab Rep"},{"issue":"2","key":"816_CR10","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1016\/j.ymgme.2014.11.002","volume":"114","author":"J Tanjuakio","year":"2015","unstructured":"Tanjuakio J, Suzuki Y, Patel P, et al. Activities of daily living in patients with hunter syndrome: impact of enzyme replacement therapy and hematopoietic stem cell transplantation. Mol Genet Metab. 2015;114(2):161\u20139.","journal-title":"Mol Genet Metab"},{"issue":"5","key":"816_CR11","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1016\/j.jpeds.2004.01.046","volume":"144","author":"JE Wraith","year":"2004","unstructured":"Wraith JE, Clarke LA, Beck M, et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr. 2004;144(5):581\u20138.","journal-title":"J Pediatr"},{"issue":"10","key":"816_CR12","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1517\/21678707.2013.846853","volume":"1","author":"S Tomatsu","year":"2013","unstructured":"Tomatsu S, Alm\u00e9ciga-D\u00edaz C, Barbosa H, et al. Therapies of mucopolysaccharidosis IVA (Morquio a syndrome). Expert Opin Orphan Drugs. 2013;1(10):805\u201318.","journal-title":"Expert Opin Orphan Drugs"},{"issue":"2","key":"816_CR13","first-page":"89","volume":"3","author":"C Decker","year":"2010","unstructured":"Decker C, Yu ZF, Giugliani R, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Pediatr Rehabil Med. 2010;3(2):89\u2013100.","journal-title":"J Pediatr Rehabil Med"},{"issue":"8","key":"816_CR14","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1016\/j.molmed.2006.06.001","volume":"12","author":"DA Brooks","year":"2006","unstructured":"Brooks DA, Muller VJ, Hopwood JJ. Stop-codon read-through for patients affected by a lysosomal storage disorder. Trends Mol Med. 2006;12(8):367\u201373.","journal-title":"Trends Mol Med"},{"issue":"3","key":"816_CR15","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1016\/j.jmb.2004.03.012","volume":"338","author":"LK Hein","year":"2004","unstructured":"Hein LK, Bawden M, Muller VJ, Sillence D, Hopwood JJ, Brooks DA. Alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. J Mol Biol. 2004;338(3):453\u201362.","journal-title":"J Mol Biol"},{"issue":"457","key":"816_CR16","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1111\/j.1651-2227.2008.00660.x","volume":"97","author":"MS Sands","year":"2008","unstructured":"Sands MS, Haskins ME. CNS-directed gene therapy for lysosomal storage diseases. Acta Paediatr Suppl. 2008;97(457):22\u20137.","journal-title":"Acta Paediatr Suppl"},{"issue":"6","key":"816_CR17","doi-asserted-by":"publisher","first-page":"1209","DOI":"10.1002\/ajmg.a.32861","volume":"149A","author":"C Di Domenico","year":"2009","unstructured":"Di Domenico C, Villani G, Di Napoli D, et al. Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB. Am J Med Genet A. 2009;149A(6):1209\u201318.","journal-title":"Am J Med Genet A"},{"issue":"37","key":"816_CR18","doi-asserted-by":"publisher","first-page":"9928","DOI":"10.1523\/JNEUROSCI.2185-07.2007","volume":"27","author":"CN Cearley","year":"2007","unstructured":"Cearley CN, Wolfe JH. A single injection of an adeno-associated virus vector into nuclei with divergent connections results in widespread vector distribution in the brain and global correction of a neurogenetic disease. J Neurosci. 2007;27(37):9928\u201340.","journal-title":"J Neurosci"},{"issue":"2","key":"816_CR19","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1016\/j.ymgme.2013.11.015","volume":"111","author":"J Muenzer","year":"2014","unstructured":"Muenzer J. Early initiation of enzyme replacement therapy for the mucopolysaccharidoses. Mol Genet Metab. 2014;111(2):63\u201372.","journal-title":"Mol Genet Metab"},{"key":"816_CR20","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1186\/s13023-015-0344-4","volume":"10","author":"NA Al-Sannaa","year":"2015","unstructured":"Al-Sannaa NA, Bay L, Barbouth DS, et al. Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships. Orphanet J Rare Dis. 2015;10:131.","journal-title":"Orphanet J Rare Dis"},{"key":"816_CR21","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1186\/1750-1172-8-147","volume":"8","author":"SP Lin","year":"2013","unstructured":"Lin SP, Lin HY, Wang TJ, et al. A pilot newborn screening program for mucopolysaccharidosis type I in Taiwan. Orphanet J Rare Dis. 2013;8:147.","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"816_CR22","doi-asserted-by":"publisher","first-page":"498","DOI":"10.1016\/j.jpeds.2013.01.031","volume":"163","author":"CR Scott","year":"2013","unstructured":"Scott CR, Elliott S, Buroker N, et al. Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry. J Pediatr. 2013;163(2):498\u2013503.","journal-title":"J Pediatr"},{"key":"816_CR23","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1007\/8904_2013_279","volume":"14","author":"GJ Ruijter","year":"2014","unstructured":"Ruijter GJ, Goudriaan DA, Boer AM, et al. Newborn screening for hunter disease: a small-scale feasibility study. JIMD Rep. 2014;14:23\u20137.","journal-title":"JIMD Rep"},{"key":"816_CR24","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1016\/0009-8981(90)90339-T","volume":"187","author":"OP Van Diggelen","year":"1990","unstructured":"Van Diggelen OP, Zhao H, Kleijer WJ, et al. A fluorimetric enzyme assay for the diagnosis of Morquio disease type a. (MPS IV a). Clin Chim Acta. 1990;187:131\u201340.","journal-title":"Clin Chim Acta"},{"key":"816_CR25","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1111\/j.1399-0004.1998.tb02747.x","volume":"53","author":"A Tylki-Szymanska","year":"1998","unstructured":"Tylki-Szymanska A, Czartoryska B, Bunge S, et al. Clinical, biochemical and molecular findings in a two-generation Morquio a family. Clin Genet. 1998;53:369\u201374.","journal-title":"Clin Genet"},{"issue":"19-20","key":"816_CR26","doi-asserted-by":"publisher","first-page":"1805","DOI":"10.1016\/j.cca.2011.06.001","volume":"412","author":"MV Camelier","year":"2011","unstructured":"Camelier MV, Burin MG, De Mari J, Vieira TA, Marasca G, Giugliani R. Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio syndrome type a) in dried blood samples. Clin Chim Acta. 2011;412(19-20):1805\u20138.","journal-title":"Clin Chim Acta"},{"issue":"1","key":"816_CR27","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1016\/j.jpeds.2014.09.023","volume":"166","author":"PV Hopkins","year":"2015","unstructured":"Hopkins PV, Campbell C, Klug T, et al. Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri. J Pediatr. 2015;166(1):172\u20137.","journal-title":"J Pediatr"},{"key":"816_CR28","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1016\/j.jpeds.2017.06.048","volume":"190","author":"BK Burton","year":"2017","unstructured":"Burton BK, Charrow J, Hoganson GE, et al. Newborn screening for lysosomal storage disorders in Illinois: ihe initial 15-month experience. J Pediatr. 2017;190:130\u20135.","journal-title":"J Pediatr"},{"key":"816_CR29","doi-asserted-by":"publisher","unstructured":"Minter Baerg MM, Stoway SD, Hart J, and et al.. Precision newborn screening for lysosomal disorders. Genet Med. 2017. doi: \n                    https:\/\/doi.org\/10.1038\/gim.2017.194\n                    \n                  .","DOI":"10.1038\/gim.2017.194"},{"key":"816_CR30","doi-asserted-by":"publisher","first-page":"1363","DOI":"10.1373\/clinchem.2015.242560","volume":"61","author":"AB Kumar","year":"2015","unstructured":"Kumar AB, Masi S, Ghomashchi F, et al. Tandem mass spectrometry has a larger analytical range than fluorescence assays of lysosomal enzymes: application to newborn screening and diagnosis of Mucopolysaccharidoses types II, IVA, and VI. Clin Chem. 2015;61:1363\u201371.","journal-title":"Clin Chem"},{"issue":"4","key":"816_CR31","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1016\/j.ymgme.2016.05.015","volume":"118","author":"S Elliott","year":"2016","unstructured":"Elliott S, Buroker N, Cournoyer JJ, Potier AM, Trometer JD, Elbin C, Schermer MJ, Kantola J, Boyce A, Turecek F, Gelb MH, Scott CR. Pilot study of newbornscreening for six lysosomal storage diseases using tandem mass spectrometry. Mol Genet Metab. 2016;118(4):304\u20139.","journal-title":"Mol Genet Metab"},{"key":"816_CR32","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1016\/j.cca.2014.01.030","volume":"431","author":"HC Liao","year":"2014","unstructured":"Liao HC, Chiang CC, Niu DM, Wang CH, Kao SM, Tsai FJ, Huang YH, Liu HC, Huang CK, Gao HJ, Yang CF, Chan MJ, Lin WD, Chen YJ. Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan. Clin Chim Acta. 2014;431:80\u20136.","journal-title":"Clin Chim Acta"},{"issue":"9","key":"816_CR33","doi-asserted-by":"publisher","first-page":"4508","DOI":"10.1021\/ac5004135","volume":"86","author":"NK Chennamaneni","year":"2014","unstructured":"Chennamaneni NK, Kumar AB, Barcenas M, Sp\u00e1\u010dil Z, Scott CR, Ture\u010dek F, Gelb MH. Improved reagents for newborn screening of mucopolysaccharidosis types I, II, and VI by tandem mass spectrometry. Anal Chem. 2014;86(9):4508\u201314.","journal-title":"Anal Chem"},{"issue":"1","key":"816_CR34","first-page":"15","volume":"64","author":"CK Chuang","year":"2001","unstructured":"Chuang CK, Lin SP, Chung SF. Diagnostic screening for mucopolysaccharidoses by the dimethylmethylene blue method and two dimensional electrophoresis. Zhonghua Yi Xue Za Zhi (Taipei). 2001;64(1):15\u201322.","journal-title":"Zhonghua Yi Xue Za Zhi (Taipei)"},{"issue":"5","key":"816_CR35","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1002\/jcla.10051","volume":"16","author":"CK Chuang","year":"2002","unstructured":"Chuang CK, Lin SP L, Lee SJ, Wang TJ. MPS screening methods, the berry spot and acid turbidity tests, cause a high incidence of false-negative results in sanfilippo and morquio syndromes. J Clin Lab Anal. 2002;16(5):253\u20138.","journal-title":"J Clin Lab Anal"},{"issue":"1","key":"816_CR36","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1016\/j.ymgme.2010.09.003","volume":"102","author":"C Auray-Blais","year":"2011","unstructured":"Auray-Blais C, Bh\u00e9rer P, Gagnon R, Young SP, Zhang HH, An Y, Clarke JT, Millington DS. Efficient analysis of urinary glycosaminoglycans by LC-MS\/MS in mucopolysaccharidoses type I, II and VI. Mol Genet Metab. 2011;102(1):49\u201356.","journal-title":"Mol Genet Metab"},{"key":"816_CR37","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1186\/s13023-014-0135-3","volume":"9","author":"CK Chuang","year":"2014","unstructured":"Chuang CK, Lin HY, Wang TJ, Tsai CC, Liu HL, Lin SP. A modified liquid chromatography\/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses. Orphanet J Rare Dis. 2014;9:135.","journal-title":"Orphanet J Rare Dis"},{"issue":"7","key":"816_CR38","doi-asserted-by":"publisher","first-page":"1005","DOI":"10.1373\/clinchem.2010.161141","volume":"57","author":"H Zhang","year":"2011","unstructured":"Zhang H, Young SP, Auray-Blais C, Orchard PJ, Tolar J, Millington DS. Analysis of glycosaminoglycans in cerebrospinal fluid from patients with mucopolysaccharidoses by isotope-dilution ultra-performance liquid chromatography-tandem mass spectrometry. Clin Chem. 2011;57(7):1005\u201312.","journal-title":"Clin Chem"},{"key":"816_CR39","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1016\/0009-8981(79)90121-9","volume":"92","author":"JJ Hopwood","year":"1979","unstructured":"Hopwood JJ, Muller V, Smithson A, Baggett N. A fluorometric assay using 4-methylumbelliferyl \u03b1-L-iduronide for the estimation of \u03b1-L-iduronidase activity and the detection of hurler and Scheie syndromes. Clin Chim Acta. 1979;92:257\u201365.","journal-title":"Clin Chim Acta"},{"issue":"6","key":"816_CR40","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1023\/A:1012763026526","volume":"24","author":"YV Voznyi","year":"2001","unstructured":"Voznyi YV, Keulemans JL, van Diggelen OP. A fluorimetric enzyme assay for the diagnosis of MPS II (hunter disease). J Inherit Metab Dis. 2001;24(6):675\u201380.","journal-title":"J Inherit Metab Dis"},{"issue":"6","key":"816_CR41","first-page":"425","volume":"101","author":"GJ Lee-Chen","year":"2002","unstructured":"Lee-Chen GJ, Lin SP, Chen IS, Chang JH, Yang CW, Chin YW. Mucopolysaccharidosis type I: identification and characterization of mutations affecting alpha-L-iduronidase activity. J Formos Med Assoc. 2002;101(6):425\u20138.","journal-title":"J Formos Med Assoc"},{"issue":"3","key":"816_CR42","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1007\/s00439-004-1234-3","volume":"116","author":"JH Chang","year":"2005","unstructured":"Chang JH, Lin SP, Lin SC, Tseng KL, Li CL, Chuang CK, Lee-Chen GJ. Expression studies of mutations underlying Taiwanese hunter syndrome (mucopolysaccharidosis type II). Hum Genet. 2005;116(3):160\u20136.","journal-title":"Hum Genet"},{"issue":"1","key":"816_CR43","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1016\/j.cca.2006.01.001","volume":"369","author":"SP Lin","year":"2006","unstructured":"Lin SP, Chang JH, Lee-Chen GJ, Lin DS, Lin HY, Chuang CK. Detection of hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers. Clin Chim Acta. 2006;369(1):29\u201334.","journal-title":"Clin Chim Acta"},{"key":"816_CR44","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1034\/j.1399-0004.2000.570207.x","volume":"57","author":"YN Teng","year":"2000","unstructured":"Teng YN, Wang TR, Hwu WL, Lin SP, Lee-Chen GJ. Identification and characterization of -3c\u2013g acceptor splice site mutation in human a -L-iduronidase associated with mucopolysaccharidosis type IH:S. Clin Genet. 2000;57:131\u20136.","journal-title":"Clin Genet."},{"key":"816_CR45","doi-asserted-by":"crossref","unstructured":"Lee-Chen GJ, Wang TR. Mucopolysaccharidosis type I: identification of novel mutations that causeHurler\/Scheie syndrome in Chinese families. J Med Genet. 1997;34(11):939\u201341.","DOI":"10.1136\/jmg.34.11.939"},{"key":"816_CR46","doi-asserted-by":"crossref","unstructured":"Wang X, Zhang W, Shi H, Qiu Z , Meng Y, Yao F, Wei M. Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis. Clin Genet. 2012;46.81(5):443\u201352.","DOI":"10.1111\/j.1399-0004.2011.01680.x"},{"key":"816_CR47","doi-asserted-by":"crossref","unstructured":"Chistiakov DA, Savost'anov KV, Kuzenkova LM, et al. Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia. Clin Chim Acta. 2014;436:112\u201320.","DOI":"10.1016\/j.cca.2014.05.010"},{"key":"816_CR48","doi-asserted-by":"crossref","unstructured":"Keeratichamroen S, Cairns JR, Wattanasirichaigoon D, et al. Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with hunter syndrome. J Inherit Metab Dis. 2008;31(Suppl 2):S303\u201311.","DOI":"10.1007\/s10545-008-0876-z"},{"key":"816_CR49","unstructured":"The single-nucleotide polymorphism (SNP) database from The National Center for Biotechnology Information (NCBI). Reference SNP: rs200120998."},{"key":"816_CR50","doi-asserted-by":"crossref","unstructured":"Kosuga M, Mashima R, Hirakiyama A, Fuji N, Kumagai T, Seo JH, Nikaido M, Saito S, Ohno K, Sakuraba H, Okuyama T. Molecular diagnosis of 65 families with mucopolysaccharidosis type II (huntersyndrome) characterized by 16 novel mutations in the IDS gene: genetic, pathological, and structural studies on iduronate-2-sulfatase. Mol Genet Metab. 2016;118(3):190\u20137.","DOI":"10.1016\/j.ymgme.2016.05.003"},{"key":"816_CR51","doi-asserted-by":"crossref","unstructured":"Charoenwattanasatien R, Cairns JR, Keeratichamroen S, et al. Decreasing activity and altered protein processing of human iduronate-2-sulfatase mutations demonstrated by expression in COS7 cells. Biochem Genet. 2012;50(11-12):990\u20137.","DOI":"10.1007\/s10528-012-9538-9"},{"key":"816_CR52","doi-asserted-by":"crossref","unstructured":"Uttarilli A, Ranganath P, Matta D, et al. Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II. Clin Genet. 2016;90(6):496\u2013508.","DOI":"10.1111\/cge.12795"},{"key":"816_CR53","doi-asserted-by":"crossref","unstructured":"Saito S, Ohno K, Okuyama T, Sakuraba H. Structural basis of Mucopolysaccharidosis type II and construction of a database of mutant Iduronate 2-sulfatases. PLoS One. 2016;11(10):e0163964.","DOI":"10.1371\/journal.pone.0163964"},{"key":"816_CR54","doi-asserted-by":"crossref","unstructured":"Wraith JE, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J. HOS Investigators. Initial report from the hunter outcome survey. Genet Med. 2008;10(7):508\u201316.","DOI":"10.1097\/GIM.0b013e31817701e6"},{"key":"816_CR55","doi-asserted-by":"crossref","unstructured":"Scarpa M, Alm\u00e1ssy Z, Beck M, et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis. 2011;6:72.","DOI":"10.1186\/1750-1172-6-72"},{"key":"816_CR56","doi-asserted-by":"crossref","unstructured":"Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Munoz V, Muenzer J. Recognition and diagnosis of mucopolysaccharidosis II (hunter syndrome). Pediatrics. 2008;121(2):e377\u201386.","DOI":"10.1542\/peds.2007-1350"},{"key":"816_CR57","doi-asserted-by":"crossref","unstructured":"Schwartz IV, Ribeiro MG, Mota JG, et al. A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatr. 2007;96(Suppl 455):63\u201370.","DOI":"10.1111\/j.1651-2227.2007.00212.x"},{"key":"816_CR58","doi-asserted-by":"crossref","unstructured":"Golda A, Jurecka A, Tylki-S. Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). Int J Cardiol. 2012;158:6\u201311.","DOI":"10.1016\/j.ijcard.2011.06.097"},{"key":"816_CR59","doi-asserted-by":"crossref","unstructured":"Harmatz P, Shediac R. Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment. Front Biosci (Landmark Ed). 2017;22:385\u2013406.","DOI":"10.2741\/4490"},{"key":"816_CR60","doi-asserted-by":"crossref","unstructured":"Tomatsu S, Gutierrez MA, Ishimaru T, et al. Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses. J Inherit Metab Dis. 2005;28(5):743\u201357.","DOI":"10.1007\/s10545-005-0069-y"},{"key":"816_CR61","doi-asserted-by":"crossref","unstructured":"Coutinho MF, Lacerda L, Alves S. Glycosaminoglycan storage disorders: a review. Biochem Res Int. 2012;2012:471325.","DOI":"10.1155\/2012\/471325"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-018-0816-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13023-018-0816-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-018-0816-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,24]],"date-time":"2019-05-24T23:07:24Z","timestamp":1558739244000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-018-0816-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5,25]]},"references-count":61,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["816"],"URL":"https:\/\/doi.org\/10.1186\/s13023-018-0816-4","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,5,25]]},"assertion":[{"value":"22 December 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 April 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 May 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"MacKay Memorial Hospital (15MMHIS109). Written informed consents obtained.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors declare that they have no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Publisher\u2019s Note"}}],"article-number":"84"}}