{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:02:34Z","timestamp":1761512554150},"reference-count":15,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2008,6,10]],"date-time":"2008-06-10T00:00:00Z","timestamp":1213056000000},"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":[[2008,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The patient is a 24\u2010year\u2010old woman who first came for consultation at age 10 years. Based on clinical phenotype and thin\u2010layer chromatography of urinary oligosaccharides, peripheral leukocytes were sent for \u03b2\u2010galactosidase assay. This testing showed a deficiency in enzyme activity, and gene mutation analysis identified a previously reported mutation p.H281Y (875C\u2009&gt;\u2009T) and a novel mutation p.W273R (817T\u2009&gt;\u2009C). Unlike previously reported patients, mutant enzymes in this patient's cultured skin fibroblasts did not respond to treatment with a chaperone compound, <jats:italic>N<\/jats:italic>\u2010octyl\u20104\u2010epi\u2010\u03b2\u2010valienamine. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32318","type":"journal-article","created":{"date-parts":[[2008,6,10]],"date-time":"2008-06-10T20:49:16Z","timestamp":1213130956000},"page":"1736-1740","source":"Crossref","is-referenced-by-count":7,"title":["Novel \u03b2\u2010galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts"],"prefix":"10.1002","volume":"146A","author":[{"given":"Zoran S.","family":"Gucev","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Velibor","family":"Tasic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandra","family":"Jancevska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgi","family":"Zafirovski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivo","family":"Kremensky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivanka","family":"Sinigerska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eiji","family":"Nanba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsumi","family":"Higaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filip","family":"Gucev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiyuki","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,6,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4439(02)00172-2"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)61251-5"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/35.7.1472"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/302968"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(75)90119-9"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb04065.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2006.02.002"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2536657100"},{"key":"e_1_2_6_10_1","first-page":"1091","article-title":"Human \u03b2\u2010galactosidase gene mutations in Morquio B disease","volume":"49","author":"Oshima A","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100570"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9451"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.12.009"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0287-y"},{"key":"e_1_2_6_15_1","first-page":"3775","volume-title":"The metabolic and molecular basis of inherited disease","author":"Suzuki Y","year":"2001"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(90)90339-T"}],"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.32318","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32318","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T08:37:08Z","timestamp":1697618228000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32318"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,6,10]]},"references-count":15,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2008,7]]}},"alternative-id":["10.1002\/ajmg.a.32318"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32318","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,6,10]]}}}