{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T22:08:02Z","timestamp":1773266882476,"version":"3.50.1"},"reference-count":39,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2014,4,1]],"date-time":"2014-04-01T00:00:00Z","timestamp":1396310400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,4,1]],"date-time":"2014-04-01T00:00:00Z","timestamp":1396310400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetics and Genomics"],"published-print":{"date-parts":[[2014,4]]},"DOI":"10.1016\/j.jgg.2014.01.007","type":"journal-article","created":{"date-parts":[[2014,2,4]],"date-time":"2014-02-04T00:00:52Z","timestamp":1391472052000},"page":"197-203","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Genetic Analysis of 17 Children with Hunter Syndrome: Identification and Functional Characterization of Four Novel Mutations in the Iduronate-2-Sulfatase Gene"],"prefix":"10.1016","volume":"41","author":[{"given":"Dimitry A.","family":"Chistiakov","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lyudmila M.","family":"Kuzenkova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirill V.","family":"Savost'anov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anait K.","family":"Gevorkyan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander A.","family":"Pushkov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexey G.","family":"Nikitin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nato D.","family":"Vashakmadze","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia V.","family":"Zhurkova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatiana V.","family":"Podkletnova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leila S.","family":"Namazova-Baranova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander A.","family":"Baranov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jgg.2014.01.007_bib1","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1002\/jcla.20375","article-title":"Neonatal screening for mucopolysaccharidoses by determination of glycosaminoglycans in the eluate of urine-impregnated paper: preliminary results of an improved DMB-based procedure","volume":"24","author":"Alonso-Fern\u00e1ndez","year":"2010","journal-title":"J. Clin. Lab. Anal."},{"key":"10.1016\/j.jgg.2014.01.007_bib2","doi-asserted-by":"crossref","first-page":"861","DOI":"10.2174\/138920111795542714","article-title":"Mucopolysaccharidosis type II (Hunter Syndrome): clinical picture and treatment","volume":"12","author":"Beck","year":"2011","journal-title":"Curr. Pharm. Biotechnol."},{"key":"10.1016\/j.jgg.2014.01.007_bib3","first-page":"398","article-title":"The linkage relation of the loci for the Xm serum system and the X-linked form of Hurler's syndrome (Hunter's syndrome)","volume":"20","author":"Berg","year":"1968","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jgg.2014.01.007_bib4","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1007\/s10545-011-9359-8","article-title":"Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management","volume":"34","author":"Braunlin","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.jgg.2014.01.007_bib5","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1038\/sj.ejhg.5200213","article-title":"Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II","volume":"6","author":"Bunge","year":"1998","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.jgg.2014.01.007_bib6","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1007\/s00439-004-1234-3","article-title":"Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II)","volume":"116","author":"Chang","year":"2005","journal-title":"Hum. Genet."},{"key":"10.1016\/j.jgg.2014.01.007_bib7","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1177\/000456329403100309","article-title":"Mucopolysaccharidoses screening: dimethylmethylene blue versus alcian blue","volume":"31","author":"de Jong","year":"1994","journal-title":"Ann. Clin. Biochem."},{"key":"10.1016\/j.jgg.2014.01.007_bib8","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/humu.1169","article-title":"Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: new mutations in the iduronate-2-sulfatase (IDS) gene","volume":"18","author":"Filocamo","year":"2001","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jgg.2014.01.007_bib9","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1111\/j.1651-2227.2007.00213.x","article-title":"Mucopolysaccharidosis type II: an update on mutation spectrum","volume":"96","author":"Froissart","year":"2007","journal-title":"Acta Paediatr. Suppl."},{"key":"10.1016\/j.jgg.2014.01.007_bib10","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1111\/j.1399-0004.1998.tb02746.x","article-title":"Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients","volume":"53","author":"Froissart","year":"1998","journal-title":"Clin. Genet."},{"key":"10.1016\/j.jgg.2014.01.007_bib11","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1111\/j.1651-2227.2002.tb03116.x","article-title":"Mucopolysaccharidosis type II \u2012 genotype\/phenotype aspects","volume":"91","author":"Froissart","year":"2002","journal-title":"Acta Paediatr. Suppl."},{"key":"10.1016\/j.jgg.2014.01.007_bib12","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1002\/humu.1380020603","article-title":"Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene","volume":"2","author":"Hopwood","year":"1993","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jgg.2014.01.007_bib13","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1146\/annurev.biochem.67.1.609","article-title":"Matrix proteoglycans: from molecular design to cellular function","volume":"67","author":"Iozzo","year":"1998","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.jgg.2014.01.007_bib14","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1023\/A:1005363414792","article-title":"Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)","volume":"21","author":"Isogai","year":"1998","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.jgg.2014.01.007_bib15","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/(SICI)1098-1004(199912)14:6<471::AID-HUMU5>3.0.CO;2-5","article-title":"Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions","volume":"14","author":"Karsten","year":"1999","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jgg.2014.01.007_bib16","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1007\/s004390050901","article-title":"Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients","volume":"103","author":"Karsten","year":"1998","journal-title":"Hum. Genet."},{"issue":"Suppl. 2","key":"10.1016\/j.jgg.2014.01.007_bib17","doi-asserted-by":"crossref","first-page":"S303","DOI":"10.1007\/s10545-008-0876-z","article-title":"Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome","volume":"31","author":"Keeratichamroen","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.jgg.2014.01.007_bib18","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1111\/j.1399-0004.2010.01574.x","article-title":"Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders","volume":"80","author":"Kloska","year":"2011","journal-title":"Clin. Genet."},{"key":"10.1016\/j.jgg.2014.01.007_bib19","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1089\/gtmb.2011.0307","article-title":"The live-birth prevalence of mucopolysaccharidoses in Estonia","volume":"16","author":"Krabbi","year":"2012","journal-title":"Genet. Test. Mol. Biomarkers"},{"key":"10.1016\/j.jgg.2014.01.007_bib20","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/j.rdc.2013.03.004","article-title":"Mucopolysaccharidoses and other lysosomal storage diseases","volume":"39","author":"Lampe","year":"2013","journal-title":"Rheum. Dis. Clin. North Am."},{"key":"10.1016\/j.jgg.2014.01.007_bib21","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1136\/jmg.36.1.21","article-title":"Molecular basis of iduronate-2 sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome)","volume":"36","author":"Li","year":"1999","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.jgg.2014.01.007_bib22","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.cca.2006.01.001","article-title":"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","volume":"369","author":"Lin","year":"2006","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.jgg.2014.01.007_bib23","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1002\/ajmg.a.20314","article-title":"Incidence of the mucopolysaccharidoses in Western Australia","volume":"123A","author":"Nelson","year":"2003","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.jgg.2014.01.007_bib24","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1016\/S0959-437X(97)80153-0","article-title":"The sulfatase gene family","volume":"7","author":"Parenti","year":"1997","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.jgg.2014.01.007_bib25","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.ymgme.2003.11.002","article-title":"Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients","volume":"81","author":"Parkinson","year":"2004","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jgg.2014.01.007_bib26","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/0090-1229(85)90021-2","article-title":"Analysis of immune complexes by two-dimensional gel electrophoresis","volume":"34","author":"Per","year":"1985","journal-title":"Clin. Immunol. Immunopathol."},{"key":"10.1016\/j.jgg.2014.01.007_bib27","doi-asserted-by":"crossref","first-page":"7","DOI":"10.7705\/biomedica.v27i1.229","article-title":"Computational prediction of the tertiary structure of the human iduronate 2-sulfate sulfatase","volume":"27","author":"S\u00e1enz","year":"2007","journal-title":"Biomedica"},{"key":"10.1016\/j.jgg.2014.01.007_bib28","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a004952","article-title":"Heparan sulfate proteoglycans","volume":"3","author":"Sarrazin","year":"2011","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"10.1016\/j.jgg.2014.01.007_bib29","doi-asserted-by":"crossref","first-page":"3129","DOI":"10.1002\/ajmg.a.33589","article-title":"A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: genotype and phenotype analysis","volume":"152A","author":"Sohn","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"issue":"Suppl. 1","key":"10.1016\/j.jgg.2014.01.007_bib30","first-page":"185","article-title":"Production of specific chicken egg yolk antibodies to iduronate 2-sulphate sulphatase (IDS) and its applicability in an enzime-linked immunosorbent assay (Elisa)","volume":"28","author":"Sosa","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.jgg.2014.01.007_bib31","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1002\/humu.1380060206","article-title":"Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients","volume":"6","author":"Sukegawa","year":"1995","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jgg.2014.01.007_bib32","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1007\/s10545-006-0440-7","article-title":"Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis","volume":"29","author":"Sukegawa-Kawasaka","year":"2006","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.jgg.2014.01.007_bib33","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1101\/gr.5.1.71","article-title":"130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus","volume":"5","author":"Timms","year":"1995","journal-title":"Genome Res."},{"key":"10.1016\/j.jgg.2014.01.007_bib34","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1136\/adc.79.3.237","article-title":"Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease)","volume":"79","author":"Vafiadaki","year":"1998","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.jgg.2014.01.007_bib35","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1006\/jmbi.2000.4297","article-title":"Crystal structure of an enzyme-substrate complex provides insight into the interaction between human arylsulfatase A and its substrates during catalysis","volume":"305","author":"von B\u00fclow","year":"2001","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.jgg.2014.01.007_bib36","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1023\/A:1012763026526","article-title":"A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)","volume":"24","author":"Voznyi","year":"2001","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.jgg.2014.01.007_bib37","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1007\/BF00194643","article-title":"Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome","volume":"86","author":"Wilson","year":"1991","journal-title":"Hum. Genet."},{"key":"10.1016\/j.jgg.2014.01.007_bib38","doi-asserted-by":"crossref","first-page":"e22951","DOI":"10.1371\/journal.pone.0022951","article-title":"Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing","volume":"6","author":"Zhang","year":"2011","journal-title":"PLoS ONE"},{"key":"10.1016\/j.jgg.2014.01.007_bib39","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1007\/BF00388459","article-title":"Hunter syndrome among Ashkenazi Jews in Israel; evidence for prenatal selection favoring the Hunter allele","volume":"71","author":"Zlotogora","year":"1985","journal-title":"Hum. Genet."}],"container-title":["Journal of Genetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1673852714000241?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1673852714000241?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T11:25:47Z","timestamp":1761650747000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1673852714000241"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4]]},"references-count":39,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,4]]}},"alternative-id":["S1673852714000241"],"URL":"https:\/\/doi.org\/10.1016\/j.jgg.2014.01.007","relation":{},"ISSN":["1673-8527"],"issn-type":[{"value":"1673-8527","type":"print"}],"subject":[],"published":{"date-parts":[[2014,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic Analysis of 17 Children with Hunter Syndrome: Identification and Functional Characterization of Four Novel Mutations in the Iduronate-2-Sulfatase Gene","name":"articletitle","label":"Article Title"},{"value":"Journal of Genetics and Genomics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jgg.2014.01.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}]}}