{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,28]],"date-time":"2025-12-28T06:17:36Z","timestamp":1766902656554},"reference-count":19,"publisher":"Annals of Laboratory Medicine","issue":"3","license":[{"start":{"date-parts":[[2013,5,1]],"date-time":"2013-05-01T00:00:00Z","timestamp":1367366400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":["annlabmed.org"],"crossmark-restriction":true},"short-container-title":["Ann Lab Med"],"published-print":{"date-parts":[[2013,5,1]]},"DOI":"10.3343\/alm.2013.33.3.221","type":"journal-article","created":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T23:34:56Z","timestamp":1366760096000},"page":"221-224","update-policy":"http:\/\/dx.doi.org\/10.3343\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A Novel Mutation (c.200T&gt;C) in the <i>NAGLU<\/i> Gene of a Korean Patient with copolysaccharidosis IIIB"],"prefix":"10.3343","volume":"33","author":[{"given":"Young-Eun","family":"Kim","sequence":"first","affiliation":[{"name":"Departments of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyung-Doo","family":"Park","sequence":"additional","affiliation":[{"name":"Departments of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mi-Ae","family":"Jang","sequence":"additional","affiliation":[{"name":"Departments of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang-Seok","family":"Ki","sequence":"additional","affiliation":[{"name":"Departments of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soo-Youn","family":"Lee","sequence":"additional","affiliation":[{"name":"Departments of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jong-Won","family":"Kim","sequence":"additional","affiliation":[{"name":"Departments of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sung Yoon","family":"Cho","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong-Kyu","family":"Jin","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"27150","reference":[{"key":"10.3343\/alm.2013.33.3.221_ref1","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1007\/978-3-642-15720-2","volume-title":"Inborn metabolic disease","author":"Saudubray","year":"2012","edition":"5"},{"key":"10.3343\/alm.2013.33.3.221_ref2","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1007\/s10545-010-9199-y","volume":"33","author":"Valstar","year":"2010","journal-title":"J Inherit Metab Dis"},{"key":"10.3343\/alm.2013.33.3.221_ref3","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1111\/j.1600-0447.2009.01521.x","volume":"122","author":"Verhoeven","year":"2010","journal-title":"Acta Psychiatr Scand"},{"key":"10.3343\/alm.2013.33.3.221_ref4","doi-asserted-by":"crossref","first-page":"6101","DOI":"10.1073\/pnas.93.12.6101","volume":"93","author":"Zhao","year":"1996","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.3343\/alm.2013.33.3.221_ref5","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1093\/hmg\/5.6.771","volume":"5","author":"Weber","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.3343\/alm.2013.33.3.221_ref6","first-page":"1132","volume":"48","author":"Sohn","year":"2005","journal-title":"Korean J Pediatr"},{"key":"10.3343\/alm.2013.33.3.221_ref7","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1101\/gr.176601","volume":"11","author":"Ng","year":"2001","journal-title":"Genome Res"},{"key":"10.3343\/alm.2013.33.3.221_ref8","doi-asserted-by":"crossref","first-page":"3894","DOI":"10.1093\/nar\/gkf493","volume":"30","author":"Ramensky","year":"2002","journal-title":"Nucleic Acids Res"},{"key":"10.3343\/alm.2013.33.3.221_ref9","first-page":"28","volume":"36","author":"Bunge","year":"1999","journal-title":"J Med Genet"},{"key":"10.3343\/alm.2013.33.3.221_ref10","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1007\/s100380200070","volume":"47","author":"Tanaka","year":"2002","journal-title":"J Hum Genet"},{"key":"10.3343\/alm.2013.33.3.221_ref11","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1007\/s10545-008-0838-5","volume":"31","author":"Valstar","year":"2008","journal-title":"J Inherit Metab Dis"},{"key":"10.3343\/alm.2013.33.3.221_ref12","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1002\/ajmg.a.32781","volume":"149A","author":"Lin","year":"2009","journal-title":"Am J Med Genet A"},{"key":"10.3343\/alm.2013.33.3.221_ref13","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1002\/ajmg.a.33779","volume":"155A","author":"H\u00e9ron","year":"2011","journal-title":"Am J Med Genet A"},{"key":"10.3343\/alm.2013.33.3.221_ref14","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s004399900075","volume":"105","author":"Poorthuis","year":"1999","journal-title":"Hum Genet"},{"key":"10.3343\/alm.2013.33.3.221_ref15","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1007\/s10545-005-0112-z","volume":"28","author":"Baehner","year":"2005","journal-title":"J Inherit Metab Dis"},{"key":"10.3343\/alm.2013.33.3.221_ref16","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1038\/sj.ejhg.5200242","volume":"7","author":"Weber","year":"1999","journal-title":"Eur J Hum Genet"},{"key":"10.3343\/alm.2013.33.3.221_ref17","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1002\/humu.1189","volume":"18","author":"Yogalingam","year":"2001","journal-title":"Hum Mutat"},{"key":"10.3343\/alm.2013.33.3.221_ref18","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1111\/j.1399-0004.1981.tb01821.x","volume":"20","author":"van de Kamp","year":"1981","journal-title":"Clin Genet"},{"key":"10.3343\/alm.2013.33.3.221_ref19","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1086\/301682","volume":"62","author":"Zhao","year":"1998","journal-title":"Am J Hum Genet"}],"container-title":["Annals of Laboratory Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/synapse.koreamed.org\/DOIx.php?id=10.3343\/alm.2013.33.3.221","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/synapse.koreamed.org\/pdf\/10.3343\/alm.2013.33.3.221","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/synapse.koreamed.org\/DOIx.php?id=10.3343\/alm.2013.33.3.221","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,30]],"date-time":"2020-10-30T02:36:20Z","timestamp":1604025380000},"score":1,"resource":{"primary":{"URL":"http:\/\/annlabmed.org\/journal\/view.html?doi=10.3343\/alm.2013.33.3.221"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,1]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,5,1]]}},"alternative-id":["10.3343\/alm.2013.33.3.221"],"URL":"https:\/\/doi.org\/10.3343\/alm.2013.33.3.221","relation":{},"ISSN":["2234-3806","2234-3814"],"issn-type":[{"value":"2234-3806","type":"print"},{"value":"2234-3814","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5,1]]},"assertion":[{"value":"http:\/\/annlabmed.org\/journal\/view.html?doi=10.3343\/alm.2013.33.3.221","URL":"http:\/\/annlabmed.org\/journal\/view.html?doi=10.3343\/alm.2013.33.3.221","name":"the_journal","label":"Ann Lab Med","group":{"name":"multiple_resolution","label":"Full text available at:"}},{"value":"2012-09-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2012-10-24","order":1,"name":"revised","label":"Revised","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-02-01","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-05-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}},{"value":"\u00a9 2013 The Korean Society for Laboratory Medicine","name":"copyright","label":"Copyright","group":{"name":"Copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:\/\/creativecommons.org\/licenses\/by-nc\/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.","name":"license","label":"License","explanation":{"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0"},"group":{"name":"Copyright_and_licensing","label":"Copyright and Licensing"}}]}}