{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:30:56Z","timestamp":1762003856048},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,12,1]],"date-time":"2005-12-01T00:00:00Z","timestamp":1133395200000},"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":[[2005,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Mucopolysaccharidosis type VI (Maroteaux\u2013Lamy syndrome, MPS VI) is an autosomal recessive disorder caused by deficiency of <jats:italic>N<\/jats:italic>\u2010acetylgalactosamine\u20104\u2010sulphatase (ARSB),which leads to the lysosomal accumulation and excretion of dermatan sulphate (DS). In this study, 13 unrelated MPS VI patients (12 Brazilian and 1 Chilean) were investigated regarding the identification of the ARSB gene mutations using PCR, SSCP and sequencing. The exons with altered mobility on SSCP were sequenced, as well as all the exons of patients with no SSCP alteration. Seven novel mutations were identified: D59N, L72R, Q88H, P93S, R197X, 1279delA and c.1143\u22128T &gt; G. The previously reported mutations 1533del23, R315Q and 427delG were found in six, three and two alleles respectively. The other mutations already reported, S384N and G144R, were found in only one allele. In addition, three polymorphisms previously described (V358M, V376M and P397P) were detected in the patients analysed. Our findings are in agreement with the literature confirming the great genetic heterogeneity associated with MPS VI.<\/jats:p>","DOI":"10.1007\/s10545-005-0020-2","type":"journal-article","created":{"date-parts":[[2006,1,25]],"date-time":"2006-01-25T09:35:29Z","timestamp":1138181729000},"page":"1027-1034","source":"Crossref","is-referenced-by-count":24,"title":["Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients"],"prefix":"10.1002","volume":"28","author":[{"given":"M. F. G.","family":"Petry","sequence":"first","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre RS Brazil"},{"name":"Department of Biochemistry Universidade Federal do Rio Grande do Sul Porto Alegre RS"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Nonemacher","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. C.","family":"Sebben","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I. V. D.","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre RS Brazil"},{"name":"Genetics Department Universidade Federal do Rio Grande do Sul Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. C. M.","family":"Azevedo","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. G.","family":"Burin","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. R.","family":"De Rezende","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Instituto Materno Infantil de PE (IMIP) Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. A.","family":"Kim","sequence":"additional","affiliation":[{"name":"Instituto da Crian\u00e7a, HC FMUSP Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre RS Brazil"},{"name":"Genetics Department Universidade Federal do Rio Grande do Sul Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Leistner\u2010Segal","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,12]]},"reference":[{"key":"e_1_2_1_2_1","unstructured":"HGMD(2005)http:\/\/www.uwcm.ac.uk\/uwcm\/mg\/search\/."},{"key":"e_1_2_1_3_1","first-page":"454","article-title":"Mucopolysaccharidosis VI (Maroteaux\u2013Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes","volume":"54","author":"Isbrandt D","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.15.4305-a"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10313"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1190"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(74)80446-8"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1515\/bchm3.1993.374.1-6.327"},{"key":"e_1_2_1_10_1","first-page":"3421","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Neufeld EF","year":"2001"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(74)90435-5"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)39778-9"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1089\/109065703322783743"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(90)90460-C"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4439(98)00099-4"},{"issue":"6","key":"e_1_2_1_16_1","first-page":"837","article-title":"Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients","volume":"36","author":"Voskoboeva EIu","year":"2000","journal-title":"Genetika"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0020-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T02:16:17Z","timestamp":1694744177000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-0020-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,12]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2005,12]]}},"alternative-id":["10.1007\/s10545-005-0020-2"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-0020-2","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,12]]}}}