{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,3]],"date-time":"2024-08-03T05:52:56Z","timestamp":1722664376831},"reference-count":27,"publisher":"Tohoku University Medical Press","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Tohoku J. Exp. Med."],"published-print":{"date-parts":[[2015]]},"DOI":"10.1620\/tjem.235.267","type":"journal-article","created":{"date-parts":[[2015,3,21]],"date-time":"2015-03-21T01:23:08Z","timestamp":1426900988000},"page":"267-273","source":"Crossref","is-referenced-by-count":4,"title":["Deletion of Exon 4 in the N-Acetylgalactosamine-4-Sulfatase Gene in a Taiwanese Patient with Mucopolysaccharidosis Type VI"],"prefix":"10.1620","volume":"235","author":[{"given":"Wei-De","family":"Lin","sequence":"first","affiliation":[{"name":"School of Post Baccalaureate Chinese Medicine, China Medical University"},{"name":"Department of Medical Research, China Medical University Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Yuan","family":"Ke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Taichung Veterans General Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I-Ching","family":"Chou","sequence":"additional","affiliation":[{"name":"Graduate Institute of Integrated Medicine, China Medical University"},{"name":"Department of Pediatrics, China Medical University Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chung-Hsing","family":"Wang","sequence":"additional","affiliation":[{"name":"School of Medicine, China Medical University"},{"name":"Department of Pediatrics, China Medical University Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuu-Jen","family":"Tsai","sequence":"additional","affiliation":[{"name":"Department of Health and Nutrition Biotechnology, Asia University"},{"name":"School of Chinese Medicine, China Medical University"},{"name":"Department of Medical Genetics, China Medical University Hospital"},{"name":"Department of Pediatrics, China Medical University Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"622","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"Arlt, G., Brooks, D.A., Isbrandt, D., Hopwood, J.J., Bielicki, J., Bradford, T.M., Bindloss-Petherbridge, C.A., von Figura, K. &amp; Peters, C. (1994) Juvenile form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). A C-terminal extension causes instability but increases catalytic efficiency of arylsulfatase B. <i>J. Biol. Chem.<\/i>, 269, 9638-9643.","DOI":"10.1016\/S0021-9258(17)36929-6"},{"key":"2","doi-asserted-by":"crossref","unstructured":"Bond, C.S., Clements, P.R., Ashby, S.J., Collyer, C.A., Harrop, S.J., Hopwood, J.J. &amp; Guss, J.M. (1997) Structure of a human lysosomal sulfatase. <i>Structure<\/i>, 5, 277-289.","DOI":"10.1016\/S0969-2126(97)00185-8"},{"key":"3","doi-asserted-by":"crossref","unstructured":"Brooks, D.A., Gibson, G.J., Karageorgos, L., Hein, L.K., Robertson, E.F. &amp; Hopwood, J.J. (2005) An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum. <i>Mol. Genet. Metab.<\/i>, 85, 236-238.","DOI":"10.1016\/j.ymgme.2005.02.008"},{"key":"4","doi-asserted-by":"crossref","unstructured":"Ceulemans, S., van der Ven, K. &amp; Del-Favero, J. (2012) Targeted screening and validation of copy number variations. <i>Methods Mol. Biol.<\/i>, 838, 311-328.","DOI":"10.1007\/978-1-61779-507-7_15"},{"key":"5","doi-asserted-by":"crossref","unstructured":"Costa-Motta, F.M., Acosta, A.X., Ab\u00e9-Sandes, K., Bender, F., Schwartz, I.V., Giugliani, R. &amp; Leistner-Segal, S. (2011) Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil. <i>Mol. Genet. Metab.<\/i>, 104, 603-607.","DOI":"10.1016\/j.ymgme.2011.09.017"},{"key":"6","unstructured":"Fidzia\u0144ska, E., Abramowicz, T., Czartoryska, B., G\u0142ogowska, I., G\u00f3rska, D., Mazurczak, T., Rodo, M., Wehr, H. &amp; Witkowska, J. (1990) Further steps in regional localization of the gene coding for human arylsulfatase B (ARSB): gene assignment to the section q11-qter of chromosome 5. <i>Probl. Med. Wieku Rozwoj.<\/i>, 16, 163-165."},{"key":"7","doi-asserted-by":"crossref","unstructured":"Furujo, M., Kubo, T., Kosuga, M. &amp; Okuyama, T. (2011) Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI. <i>Mol. Genet. Metab.<\/i>, 104, 597-602.","DOI":"10.1016\/j.ymgme.2011.08.029"},{"key":"8","doi-asserted-by":"crossref","unstructured":"Harmatz, P., Giugliani, R., Schwartz, I., Guffon, N., Teles, E.L., Miranda, M.C., Wraith, J.E., Beck, M., Arash, L., Scarpa, M., Yu, Z.F., Wittes, J., Berger, K.I., Newman, M.S., Lowe, A.M., et al. (2006) Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-up open-label extension study. <i>J. Pediatr.<\/i>, 148, 533-539.","DOI":"10.1016\/j.jpeds.2005.12.014"},{"key":"9","doi-asserted-by":"crossref","unstructured":"Harmatz, P., Whitley, C.B., Waber, L., Pais, R., Steiner, R., Plecko, B., Kaplan, P., Simon, J., Butensky, E. &amp; Hopwood, J.J. (2004) Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). <i>J. Pediatr.<\/i>, 144, 574-580.","DOI":"10.1016\/j.jpeds.2004.03.018"},{"key":"10","doi-asserted-by":"crossref","unstructured":"Harmatz, P., Yu, Z.F., Giugliani, R., Schwartzm, I.V., Guffon, N., Teles, E.L., Miranda, M.C., Wraith, J.E., Beck, M., Arash, L., Scarpa, M., Ketteridge, D., Hopwood, J.J., Plecko, B., Steiner, R., et al. (2010) Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. <i>J. Inherit. Metab. Dis.<\/i>, 33, 51-60.","DOI":"10.1007\/s10545-009-9007-8"},{"key":"11","unstructured":"Isbrandt, D., Arlt, G., Brooks, D.A., Hopwood, J.J., von Figura, K. &amp; Peters, C. (1994) Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. <i>Am. J. Hum. Genet.<\/i>, 54, 454-463."},{"key":"12","doi-asserted-by":"crossref","unstructured":"Jurecka, A., Piotrowska, E., Cimbalistiene, L., Gusina, N., Sobczy\u0144ska, A., Czartoryska, B., Czerska, K., \u00d5unap, K., W\u0119grzyn, G. &amp; Tylki-Szyma\u0144ska, A. (2012) Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. <i>Mol. Genet. Metab.<\/i>, 105, 237-243.","DOI":"10.1016\/j.ymgme.2011.11.003"},{"key":"13","doi-asserted-by":"crossref","unstructured":"Karageorgos, L., Brooks, D.A., Pollard, A., Melville, E.L., Hein, L.K., Clements, P.R., Ketteridge, D., Swiedler, S.J., Beck, M., Giugliani, R., Harmatz, P., Wraith, J.E., Guffon, N., Le\u00e3o Teles, E., S\u00e1 Miranda, M.C. &amp; Hopwood, J.J. (2007) Mutational analysis of 105 mucopolysaccharidosis type VI patients. <i>Hum. Mutat.<\/i>, 28, 897-903.","DOI":"10.1002\/humu.20534"},{"key":"14","doi-asserted-by":"crossref","unstructured":"Lin, H.Y., Chen, M.R., Chuang, C.K., Chen, C.P., Lin, D.S., Chien, Y.H., Ke, Y.Y., Tsai, F.J., Pan, H.P., Lin, S.J., Hwu, W.L., Niu, D.M., Lee, N.C. &amp; Lin, S.P. (2010) Enzyme replacement therapy for mucopolysaccharidosis VI: experience in Taiwan. <i>J. Inherit. Metab. Dis.<\/i>, 33, S421-427.","DOI":"10.1007\/s10545-010-9212-5"},{"key":"15","doi-asserted-by":"crossref","unstructured":"Lin, W.D., Lin, S.P., Wang, C.H., Hwu, W.L., Chuang, C.K., Lin, S.J., Tsai, Y., Chen, C.P. &amp; Tsai, F.J. (2008) Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. <i>Clin. Chim. Acta<\/i>, 394, 89-93.","DOI":"10.1016\/j.cca.2008.04.014"},{"key":"16","doi-asserted-by":"crossref","unstructured":"Litjens, T. &amp; Hopwood, J.J. (2007) Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. <i>Hum. Mutat.<\/i>, 18, 282-295.","DOI":"10.1002\/humu.1190"},{"key":"17","doi-asserted-by":"crossref","unstructured":"Modaressi, S., Rupp, K., von Figura, K. &amp; Peters, C. (1993) Structure of the human arylsulfatase B gene. <i>Biol. Chem. Hoppe Seyler<\/i>, 374, 327-335.","DOI":"10.1515\/bchm3.1993.374.1-6.327"},{"key":"18","unstructured":"Neufeld, E.F. &amp; Muenzer, J. (2001) The Mucopolysaccharidoses. In <i>The Metabolic and Molecular Basis of Inherited Disease<\/i>, 8th ed., edited by Scriver, C.R., Sly, W.S., Childs, B., Beaudet, A.L., Valle, D., Kinzler, K.W. &amp; Vogelstein, B. Mc-Graw-Hill, New York, NY, pp. 3421-3452."},{"key":"19","unstructured":"Peters, C., Schmidt, B., Rommerskirch, W., Rupp, K., Z\u00fchlsdorf, M., Vingron, M., Meyer, H.E., Pohlmann, R. &amp; von Figura, K. (1990) Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase B. <i>J. Biol. Chem.<\/i>, 265, 3374-3381."},{"key":"20","doi-asserted-by":"crossref","unstructured":"Pinto, R., Caseiro, C., Lemos, M., Lopes, L., Fontes, A., Ribeiro, H., Pinto, E., Silva, E., Rocha, S., Marc\u00e3o, A., Ribeiro, I., Lacerda, L., Ribeiro, G., Amaral, O. &amp; S\u00e1 Miranda, M.C. (2004) Prevalence of lysosomal storage diseases in Portugal. <i>Eur. J. Hum. Genet.<\/i>, 12, 87-92.","DOI":"10.1038\/sj.ejhg.5201044"},{"key":"21","doi-asserted-by":"crossref","unstructured":"Poorthuis, B.J., Wevers, R.A., Kleijer, W.J., Groener, J.E., de Jong, J.G., van Weely, S., Niezen-Koning, K.E. &amp; van Diggelen, O.P. (1999) The frequency of lysosomal storage diseases in The Netherlands. <i>Hum. Genet.<\/i>, 105, 151-156.","DOI":"10.1007\/s004399900075"},{"key":"22","doi-asserted-by":"crossref","unstructured":"Quigley, H.A. &amp; Kenyon, K.R. (1974) Ultrastructural and histochemical studies of a newly recognized form of systemic mucopolysaccharidosis. (Maroteaux-Lamy syndrome, mild phenotype). <i>Am. J. Ophthalmol.<\/i>, 77, 809-818.","DOI":"10.1016\/0002-9394(74)90383-3"},{"key":"23","doi-asserted-by":"crossref","unstructured":"Schuchman, E.H., Jackson, C.E. &amp; Desnick, R.J. (1990) Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C. <i>Genomics<\/i>, 6, 149-158.","DOI":"10.1016\/0888-7543(90)90460-C"},{"key":"24","doi-asserted-by":"crossref","unstructured":"Shi, Y.R., Hsieh, K.S., Wu, J.Y., Lee, C.C., Tsai, C.H. &amp; Tsai, F.J. (2002) Molecular analysis of syndromic congenital heart disease using short tandem repeat markers and semiquantitative polymerase chain reaction method. <i>Pediatr. Int.<\/i>, 44, 264-268.","DOI":"10.1046\/j.1442-200X.2002.01553.x"},{"key":"25","doi-asserted-by":"crossref","unstructured":"Valayannopoulos, V., Nicely, H., Harmatz, P. &amp; Turbeville, S. (2010) Mucopolysaccharidosis VI. <i>Orphanet. J. Rare Dis.<\/i>, 5, 5.","DOI":"10.1186\/1750-1172-5-5"},{"key":"26","doi-asserted-by":"crossref","unstructured":"Villani, G.R., Grosso, M., Pontarelli, G., Chierchia, A., Sessa, R., Sibilio, M., Parenti, G. &amp; Di Natale, P. (2010) Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient. <i>Genet. Test. Mol. Biomarkers<\/i>, 14, 113-120.","DOI":"10.1089\/gtmb.2009.0138"},{"key":"27","doi-asserted-by":"crossref","unstructured":"Wald, S.L. &amp; Schmidek, H.H. (1984) Compressive myelopathy associated with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome). <i>Neurosurgery<\/i>, 14, 83-88.","DOI":"10.1227\/00006123-198401000-00020"}],"container-title":["The Tohoku Journal of Experimental Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/tjem\/235\/4\/235_267\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,3]],"date-time":"2022-05-03T17:01:47Z","timestamp":1651597307000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/tjem\/235\/4\/235_267\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":27,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015]]}},"URL":"https:\/\/doi.org\/10.1620\/tjem.235.267","relation":{},"ISSN":["0040-8727","1349-3329"],"issn-type":[{"value":"0040-8727","type":"print"},{"value":"1349-3329","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}