{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T19:39:56Z","timestamp":1790969996399,"version":"4.1.0"},"reference-count":14,"publisher":"Korean Academy of Medical Sciences","issue":"5","license":[{"start":{"date-parts":[[2006,1,1]],"date-time":"2006-01-01T00:00:00Z","timestamp":1136073600000},"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":[[2006]]},"DOI":"10.3346\/jkms.2006.21.5.800","type":"journal-article","created":{"date-parts":[[2009,7,6]],"date-time":"2009-07-06T09:00:44Z","timestamp":1246870844000},"page":"800","update-policy":"https:\/\/doi.org\/10.3346\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["A Korean Female Patient with Thiamine-responsive Pyruvate Dehydrogenase Complex Deficiency Due to a Novel Point Mutation (Y161C)in the PDHA1 Gene"],"prefix":"10.3346","volume":"21","author":[{"given":"Eun Ha","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Research Laboratory for Human Mitochondrial Disorders, Ajou University School of Medicine, Suwon, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mi Sun","family":"Ahn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Research Laboratory for Human Mitochondrial Disorders, Ajou University School of Medicine, Suwon, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin Soon","family":"Hwang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Research Laboratory for Human Mitochondrial Disorders, Ajou University School of Medicine, Suwon, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyung Hwa","family":"Ryu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Research Laboratory for Human Mitochondrial Disorders, Ajou University School of Medicine, Suwon, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sun Jun","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Chonbuk National University Medical School, Jeonju, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung Hwan","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Research Laboratory for Human Mitochondrial Disorders, Ajou University School of Medicine, Suwon, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1898","reference":[{"key":"10.3346\/jkms.2006.21.5.800_ref1","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.0.CO;2-K","volume":"15","author":"Lissens","year":"2000","journal-title":"Hum Mutat"},{"key":"10.3346\/jkms.2006.21.5.800_ref2","first-page":"2275","volume-title":"The metabolic and molecular bases of inherited disease","author":"Robinson","year":"2001","edition":"8"},{"key":"10.3346\/jkms.2006.21.5.800_ref3","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1007\/BF02435998","volume":"18","author":"Matsuda","year":"1995","journal-title":"J Inher Metab Dis"},{"key":"10.3346\/jkms.2006.21.5.800_ref4","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1172\/JCI110176","volume":"67","author":"Sheu","year":"1981","journal-title":"J Clin Invest"},{"key":"10.3346\/jkms.2006.21.5.800_ref5","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/S0925-4439(02)00142-4","volume":"1588","author":"Naito","year":"2002","journal-title":"Biochim Biophys Acta"},{"key":"10.3346\/jkms.2006.21.5.800_ref6","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1203\/00006450-199409000-00013","volume":"36","author":"Naito","year":"1994","journal-title":"Pediatr Res"},{"key":"10.3346\/jkms.2006.21.5.800_ref7","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1053\/ejpn.2000.0278","volume":"4","author":"Di Rocco","year":"2000","journal-title":"Eur J Paediatr Neurol"},{"key":"10.3346\/jkms.2006.21.5.800_ref8","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1006\/bbrc.1996.1680","volume":"228","author":"Saijo","year":"1996","journal-title":"Biochem Biophys Res Commun"},{"key":"10.3346\/jkms.2006.21.5.800_ref9","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1023\/A:1016570828778","volume":"25","author":"Benelli","year":"2002","journal-title":"J Inher Metab Dis"},{"key":"10.3346\/jkms.2006.21.5.800_ref10","doi-asserted-by":"crossref","first-page":"465","DOI":"10.3177\/jnsv.39.465","volume":"39","author":"Kitamori","year":"1993","journal-title":"J Nutr Sci Vitaminol"},{"key":"10.3346\/jkms.2006.21.5.800_ref11","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/0014-5793(93)80973-X","volume":"328","author":"Robinson","year":"1993","journal-title":"FEBS Lett"},{"key":"10.3346\/jkms.2006.21.5.800_ref12","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/S0022-510X(99)00250-6","volume":"171","author":"Naito","year":"1999","journal-title":"J Neurol Sci"},{"key":"10.3346\/jkms.2006.21.5.800_ref13","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1023\/A:1005305614374","volume":"20","author":"Naito","year":"1997","journal-title":"J Inherit Metab Dis"},{"key":"10.3346\/jkms.2006.21.5.800_ref14","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1007\/s004390050449","volume":"99","author":"Marsac","year":"1997","journal-title":"Hum Genet"}],"container-title":["Journal of Korean Medical Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/synapse.koreamed.org\/DOIx.php?id=10.3346\/jkms.2006.21.5.800","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/synapse.koreamed.org\/pdf\/10.3346\/jkms.2006.21.5.800","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/jkms.org\/DOIx.php?id=10.3346\/jkms.2006.21.5.800","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,15]],"date-time":"2020-05-15T05:54:09Z","timestamp":1589522049000},"score":1,"resource":{"primary":{"URL":"https:\/\/jkms.org\/DOIx.php?id=10.3346\/jkms.2006.21.5.800"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006]]},"references-count":14,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2006]]}},"URL":"https:\/\/doi.org\/10.3346\/jkms.2006.21.5.800","relation":{},"ISSN":["1011-8934"],"issn-type":[{"value":"1011-8934","type":"print"}],"subject":[],"published":{"date-parts":[[2006]]},"assertion":[{"value":"https:\/\/synapse.koreamed.org\/DOIx.php?id=10.3346\/jkms.2006.21.5.800","URL":"https:\/\/synapse.koreamed.org\/DOIx.php?id=10.3346\/jkms.2006.21.5.800","name":"synapse","label":"Synapse","group":{"name":"multiple_resolution","label":"Full text available at:"}},{"value":"http:\/\/jkms.org\/DOIx.php?id=10.3346\/jkms.2006.21.5.800","URL":"http:\/\/jkms.org\/DOIx.php?id=10.3346\/jkms.2006.21.5.800","name":"the_journal","label":"the Journal","group":{"name":"multiple_resolution","label":"Full text available at:"}},{"value":"2005-11-07","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2006-02-15","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2006-10-31","name":"published_online","label":"Published online","group":{"name":"publication_history","label":"Publication History"}},{"value":"Copyright \u00a9 2006 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"}}]}}