{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T02:03:19Z","timestamp":1778292199926,"version":"3.51.4"},"reference-count":34,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2008,7,1]],"date-time":"2008-07-01T00:00:00Z","timestamp":1214870400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2008,7]]},"DOI":"10.1016\/j.ymgme.2008.02.012","type":"journal-article","created":{"date-parts":[[2008,4,11]],"date-time":"2008-04-11T19:38:36Z","timestamp":1207942716000},"page":"305-312","source":"Crossref","is-referenced-by-count":32,"title":["Maroteaux\u2013Lamy syndrome: Functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene"],"prefix":"10.1016","volume":"94","author":[{"given":"Elena","family":"Garrido","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bru","family":"Cormand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John J.","family":"Hopwood","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amparo","family":"Chab\u00e1s","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Grinberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Llu\u00efsa","family":"Vilageliu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2008.02.012_bib1","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/0167-4838(92)90051-E","article-title":"Components and proteolytic processing sites of arylsulfatase B from human placenta","volume":"1159","author":"Kobayashi","year":"1992","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2008.02.012_bib2","doi-asserted-by":"crossref","first-page":"21386","DOI":"10.1016\/S0021-9258(18)54649-4","article-title":"Mucopolysaccharidosis VI (Maroteaux\u2013Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B","volume":"266","author":"Wicker","year":"1991","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2008.02.012_bib3","first-page":"795","article-title":"Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity","volume":"50","author":"Jin","year":"1992","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2008.02.012_bib4","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1002\/humu.1380010509","article-title":"An N-acetylgalactosamine-4-sulfatase mutation delta G238 results in a severe Maroteaux\u2013Lamy phenotype","volume":"1","author":"Litjens","year":"1992","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2008.02.012_bib5","first-page":"1127","article-title":"Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients","volume":"58","author":"Litjens","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2008.02.012_bib6","doi-asserted-by":"crossref","first-page":"9638","DOI":"10.1016\/S0021-9258(17)36929-6","article-title":"Juvenile form of mucopolysaccharidosis VI Maroteaux\u2013Lamy syndrome. A C-terminal extension causes instability but increases catalytic efficiency of arylsulfatase B","volume":"269","author":"Arlt","year":"1994","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2008.02.012_bib7","first-page":"454","article-title":"Mucopolysaccharidosis VI Maroteaux\u2013Lamy syndrome: six unique arylsulfatase B gene alleles causing variable disease phenotypes","volume":"54","author":"Isbrandt","year":"1994","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2008.02.012_bib8","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1002\/(SICI)1098-1004(1996)7:4<361::AID-HUMU12>3.0.CO;2-0","article-title":"Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux\u2013Lamy syndrome","volume":"7","author":"Isbrandt","year":"1996","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2008.02.012_bib9","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1007\/BF00212019","article-title":"Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux\u2013Lamy syndrome)","volume":"93","author":"Voskoboeva","year":"1994","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2008.02.012_bib10","first-page":"837","article-title":"Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients","volume":"36","author":"Voskoboeva","year":"2000","journal-title":"Genetika"},{"key":"10.1016\/j.ymgme.2008.02.012_bib11","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/0925-4439(95)00070-4","article-title":"N-Acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI","volume":"1272","author":"Simonaro","year":"1995","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2008.02.012_bib12","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1002\/(SICI)1098-1004(1998)11:5<410::AID-HUMU9>3.0.CO;2-Q","article-title":"Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis. Mutation in brief 127","volume":"11","author":"Villani","year":"1998","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2008.02.012_bib13","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/S0925-4439(98)00099-4","article-title":"Maroteaux\u2013lamy syndrome: five novel mutations and their structural localization","volume":"1453","author":"Villani","year":"1999","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2008.02.012_bib14","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1002\/(SICI)1098-1004(200004)15:4<389::AID-HUMU31>3.0.CO;2-0","article-title":"A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux\u2013Lamy syndrome)","volume":"15","author":"Wu","year":"2000","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2008.02.012_bib15","first-page":"820","article-title":"Mucopolysaccharidosis type VI: report of two Taiwanese patients and identification of one novel mutation","volume":"100","author":"Yang","year":"2001","journal-title":"J. Formos Med. Assoc."},{"key":"10.1016\/j.ymgme.2008.02.012_bib16","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1089\/109065703322783743","article-title":"Identification of a novel mutation in the ARSB gene that is frequent among Brazilian MPS VI patients","volume":"7","author":"Petry","year":"2003","journal-title":"Genet. Test."},{"key":"10.1016\/j.ymgme.2008.02.012_bib17","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1007\/s10545-005-0020-2","article-title":"Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients","volume":"286","author":"Petry","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2008.02.012_bib18","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/humu.10313","article-title":"Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy","volume":"23","author":"Karageorgos","year":"2004","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2008.02.012_bib19","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.ymgme.2006.10.008","article-title":"Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trail of enzyme replacement therapy","volume":"90","author":"Karageorgos","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2008.02.012_bib20","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1002\/humu.20534","article-title":"Mutational analysis of 105 mucopolysaccharidosis type VI patients","volume":"28","author":"Karageorgos","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2008.02.012_bib21","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/j.ymgme.2005.02.008","article-title":"An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum","volume":"853","author":"Brooks","year":"2005","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2008.02.012_bib22","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.cca.2006.06.024","article-title":"Two novel mutations of the arylsulfatase B gene in a Chinese MPS VI child undergoing bone marrow transplantation therapy","volume":"374","author":"Dou","year":"2006","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2008.02.012_bib23","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.ymgme.2007.06.002","article-title":"Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux\u2013Lamy syndrome) patients, including 9 novel mutations","volume":"92","author":"Garrido","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2008.02.012_bib24","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/0009-8981(59)90119-6","article-title":"The assay of arylsulphatases A and B in human urine","volume":"4","author":"Baum","year":"1959","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2008.02.012_bib25","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1016\/j.ymgme.2004.07.001","article-title":"Expression and functional characterization of human mutant sulfamidase in insect cells","volume":"83","author":"Montfort","year":"2004","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2008.02.012_bib26","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1034\/j.1600-0749.2001.140609.x","article-title":"The ocular albinism type 1 gene product is an N-glycoprotein but glycosylation is not required for its subcellular distribution","volume":"14","author":"Shen","year":"2001","journal-title":"Pigment Cell Res."},{"key":"10.1016\/j.ymgme.2008.02.012_bib27","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/S0968-0004(98)01208-0","article-title":"A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance","volume":"23","author":"Nagy","year":"1998","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.ymgme.2008.02.012_bib28","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1038\/ng1403","article-title":"Nonsense-mediated decay approaches the clinic","volume":"36","author":"Holbrook","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgme.2008.02.012_bib29","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.molmed.2006.05.005","article-title":"Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges","volume":"12","author":"Kuzmiak","year":"2006","journal-title":"Trends Mol. Med."},{"key":"10.1016\/j.ymgme.2008.02.012_bib30","doi-asserted-by":"crossref","first-page":"4305","DOI":"10.1093\/nar\/19.15.4305-a","article-title":"A common polymorphism in the human arylsulfatase B (ARSB) gene at 5q13\u2013q14","volume":"19","author":"Jin","year":"1991","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2008.02.012_bib31","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/0888-7543(90)90460-C","article-title":"Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C","volume":"6","author":"Schuchman","year":"1990","journal-title":"Genomics"},{"key":"10.1016\/j.ymgme.2008.02.012_bib32","doi-asserted-by":"crossref","first-page":"1592","DOI":"10.1101\/gr.4413105","article-title":"The International HapMap Project web site","volume":"15","author":"Thorisson","year":"2005","journal-title":"Genome Res."},{"key":"10.1016\/j.ymgme.2008.02.012_bib33","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/S0969-2126(97)00185-8","article-title":"Structure of a human lysosomal sulfatase","volume":"5","author":"Bond","year":"2007","journal-title":"Structure"},{"key":"10.1016\/j.ymgme.2008.02.012_bib34","doi-asserted-by":"crossref","first-page":"5736","DOI":"10.1002\/anie.200300632","article-title":"Sulfatases: structure, mechanism, biological activity, inhibition, and synthetic utility","volume":"43","author":"Hanson","year":"2004","journal-title":"Angew. Chem., Int. Ed."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719208000577?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719208000577?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,9,7]],"date-time":"2021-09-07T23:14:45Z","timestamp":1631056485000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719208000577"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,7]]},"references-count":34,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,7]]}},"alternative-id":["S1096719208000577"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2008.02.012","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2008,7]]}}}