{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T02:28:18Z","timestamp":1769048898652,"version":"3.49.0"},"reference-count":15,"publisher":"Korean Academy of Medical Sciences","issue":"9","license":[{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0"},{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0"}],"content-domain":{"domain":["synapse.koreamed.org"],"crossmark-restriction":false},"short-container-title":["J Korean Med Sci"],"published-print":{"date-parts":[[2011]]},"DOI":"10.3346\/jkms.2011.26.9.1244","type":"journal-article","created":{"date-parts":[[2011,9,7]],"date-time":"2011-09-07T00:56:08Z","timestamp":1315356968000},"page":"1244","update-policy":"https:\/\/doi.org\/10.3346\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Dopa-responsive Dystonia with a Novel Initiation Codon Mutation in the <i>GCH1<\/i> Gene Misdiagnosed as Cerebral Palsy"],"prefix":"10.3346","volume":"26","author":[{"given":"Jae-Hyeok","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang-Seok","family":"Ki","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dae-Seong","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jae-Wook","family":"Cho","sequence":"additional","affiliation":[{"name":"Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyung-Phil","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seonhye","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1898","reference":[{"key":"10.3346\/jkms.2011.26.9.1244_ref1","first-page":"215","volume":"14","author":"Segawa","year":"1976","journal-title":"Adv Neurol"},{"key":"10.3346\/jkms.2011.26.9.1244_ref2","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1212\/01.WNL.0000152839.50258.A2","volume":"64","author":"Hagenah","year":"2005","journal-title":"Neurology"},{"key":"10.3346\/jkms.2011.26.9.1244_ref3","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1038\/ng1194-236","volume":"8","author":"Ichinose","year":"1994","journal-title":"Nat Genet"},{"key":"10.3346\/jkms.2011.26.9.1244_ref4","volume-title":"GeneReviews","author":"Furukawa","year":"1993"},{"key":"10.3346\/jkms.2011.26.9.1244_ref5","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1159\/000053355","volume":"52","author":"Hong","year":"2001","journal-title":"Hum Hered"},{"key":"10.3346\/jkms.2011.26.9.1244_ref6","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/S0387-7604(03)00167-0","volume":"26","author":"Kang","year":"2004","journal-title":"Brain Dev"},{"key":"10.3346\/jkms.2011.26.9.1244_ref7","doi-asserted-by":"crossref","first-page":"271","DOI":"10.3858\/emm.2008.40.3.271","volume":"40","author":"Kim","year":"2008","journal-title":"Exp Mol Med"},{"key":"10.3346\/jkms.2011.26.9.1244_ref8","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.pediatrneurol.2008.01.012","volume":"38","author":"Yum","year":"2008","journal-title":"Pediatr Neurol"},{"key":"10.3346\/jkms.2011.26.9.1244_ref9","doi-asserted-by":"crossref","first-page":"269","DOI":"10.3346\/jkms.1997.12.4.269","volume":"12","author":"Jeon","year":"1997","journal-title":"J Korean Med Sci"},{"key":"10.3346\/jkms.2011.26.9.1244_ref10","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1002\/ana.410430614","volume":"43","author":"Jeon","year":"1998","journal-title":"Ann Neurol"},{"issue":"Suppl 6","key":"10.3346\/jkms.2011.26.9.1244_ref11","doi-asserted-by":"crossref","first-page":"S32","DOI":"10.1002\/ana.10630","volume":"54","author":"Segawa","year":"2003","journal-title":"Ann Neurol"},{"key":"10.3346\/jkms.2011.26.9.1244_ref12","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1136\/jnnp.64.4.469","volume":"64","author":"Tamaru","year":"1998","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.3346\/jkms.2011.26.9.1244_ref13","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1002\/mds.22646","volume":"25","author":"Cao","year":"2010","journal-title":"Mov Disord"},{"key":"10.3346\/jkms.2011.26.9.1244_ref14","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1212\/WNL.41.2_Part_1.174","volume":"41","author":"Nygaard","year":"1991","journal-title":"Neurology"},{"key":"10.3346\/jkms.2011.26.9.1244_ref15","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1111\/j.1469-8749.2004.tb00462.x","volume":"46","author":"Tsirikos","year":"2004","journal-title":"Dev Med Child Neurol"}],"container-title":["Journal of Korean Medical Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/synapse.koreamed.org\/pdf\/10.3346\/jkms.2011.26.9.1244","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/synapse.koreamed.org\/DOIx.php?id=10.3346\/jkms.2011.26.9.1244","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/jkms.org\/DOIx.php?id=10.3346\/jkms.2011.26.9.1244","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,15]],"date-time":"2020-05-15T06:04:17Z","timestamp":1589522657000},"score":1,"resource":{"primary":{"URL":"https:\/\/jkms.org\/DOIx.php?id=10.3346\/jkms.2011.26.9.1244"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"references-count":15,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2011]]}},"URL":"https:\/\/doi.org\/10.3346\/jkms.2011.26.9.1244","relation":{},"ISSN":["1011-8934","1598-6357"],"issn-type":[{"value":"1011-8934","type":"print"},{"value":"1598-6357","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011]]},"assertion":[{"value":"https:\/\/synapse.koreamed.org\/DOIx.php?id=10.3346\/jkms.2011.26.9.1244","URL":"https:\/\/synapse.koreamed.org\/DOIx.php?id=10.3346\/jkms.2011.26.9.1244","name":"synapse","label":"Synapse","group":{"name":"multiple_resolution","label":"Full text available at:"}},{"value":"http:\/\/jkms.org\/DOIx.php?id=10.3346\/jkms.2011.26.9.1244","URL":"http:\/\/jkms.org\/DOIx.php?id=10.3346\/jkms.2011.26.9.1244","name":"the_journal","label":"the Journal","group":{"name":"multiple_resolution","label":"Full text available at:"}},{"value":"2011-03-23","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2011-07-19","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2011-09-01","name":"published_online","label":"Published online","group":{"name":"publication_history","label":"Publication History"}},{"value":"\u00a9 2011 The Korean Academy of Medical Sciences.","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"}}]}}