{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T16:37:57Z","timestamp":1782319077832,"version":"3.54.5"},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,1,13]],"date-time":"2012-01-13T00:00:00Z","timestamp":1326412800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X\u2010linked lysosomal storage disease caused by a deficiency of iduronate\u20102\u2010sulfatase (IDS). Two affected girls with moderate and severe forms of MPS II with normal karyotypes and increased urinary dermatan sulphate and heparin sulphate excretion and marked deficiencies of IDS activity are reported. Molecular studies showed that case 1 has a heterozygous mutation c.1568A\u2009&gt;\u2009G (p.Y523C) associated with almost totally skewed inactivation of the normal maternal X chromosome, and case 2 has a heterozygous deletion that includes exons 1\u20134 of IDS (minimal deletion range c.1\u2013103_184del). The multi\u2010exon deletion correlated with early onset of the disease and severe phenotype with intellectual disability, whereas the missense mutation was associated with moderate developmental delay. Although genotype\u2013phenotype correlation in MPS II is difficult, gene deletions seem to correlate with more severe clinical manifestation of the disease. Enzyme replacement therapy (ERT) in these two females resulted in disease stabilization in both. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34415","type":"journal-article","created":{"date-parts":[[2012,1,13]],"date-time":"2012-01-13T20:16:33Z","timestamp":1326485793000},"page":"450-454","source":"Crossref","is-referenced-by-count":34,"title":["Mucopolysaccharidosis type II in females and response to enzyme replacement therapy"],"prefix":"10.1002","volume":"158A","author":[{"given":"Agnieszka","family":"Jurecka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zita","family":"Krumina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zbigniew","family":"\u017buber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"R\u00f3\u017cd\u017cy\u0144ska\u2010\u015awi\u0105tkowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"K\u0142oska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Czartoryska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Tylki\u2010Szyma\u0144ska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,1,13]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.07.013"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01896.x"},{"key":"e_1_2_4_4_1","first-page":"289","article-title":"Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl","volume":"49","author":"Clarke JT","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.10.e29"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33770"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2002.tb03116.x"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200211000-00005"},{"key":"e_1_2_4_9_1","first-page":"597","article-title":"Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer\u2010assisted interpretation: Toward mutation mapping of the iduronate\u20102\u2010sulfatase gene","volume":"56","author":"Jonsson JJ","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01574.x"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/190372a0"},{"key":"e_1_2_4_12_1","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195188127.001.0001","volume-title":"Females are mosaics: X inactivation and sex differences in disease 1e","author":"Migeon B","year":"2007"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.295.12.1428"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.58.11.911"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181fea459"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318206786f"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.09.001"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000232477.37660.fb"},{"key":"e_1_2_4_19_1","first-page":"455","article-title":"The Hunter syndrome in females: Is there an autosomal recessive form of iduronate sulfatase deficiency?","volume":"29","author":"Neufeld EF","year":"1977","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_20_1","first-page":"3421","volume-title":"The metabolic and molecular basis of inherited disease","author":"Neufeld EF","year":"2001"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2008.01153.x"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651\u20102227.2010.02060.x"},{"key":"e_1_2_4_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33589"},{"key":"e_1_2_4_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1998.tb02654.x"},{"key":"e_1_2_4_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)10:5<361::AID-HUMU5>3.0.CO;2-I"},{"key":"e_1_2_4_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2004.10.009"},{"key":"e_1_2_4_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651\u20102227.2011.02385.x"},{"key":"e_1_2_4_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.79.3.237"},{"key":"e_1_2_4_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440625"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.34415","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34415","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,17]],"date-time":"2024-04-17T17:41:01Z","timestamp":1713375661000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34415"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1,13]]},"references-count":28,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,2]]}},"alternative-id":["10.1002\/ajmg.a.34415"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34415","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,1,13]]}}}