{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,30]],"date-time":"2022-03-30T09:59:46Z","timestamp":1648634386025},"reference-count":10,"publisher":"Annals of Laboratory Medicine","issue":"1","license":[{"start":{"date-parts":[[2018,1,28]],"date-time":"2018-01-28T00:00:00Z","timestamp":1517097600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["annlabmed.org"],"crossmark-restriction":true},"short-container-title":["Ann Lab Med"],"published-print":{"date-parts":[[2018,1,28]]},"DOI":"10.3343\/alm.2018.38.1.80","type":"journal-article","created":{"date-parts":[[2017,10,27]],"date-time":"2017-10-27T02:04:53Z","timestamp":1509069893000},"page":"80-82","update-policy":"http:\/\/dx.doi.org\/10.3343\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Identification of Homozygous Likely Pathogenic Variant of <i>ALDH3A2<\/i> in a Korean Boy with Sj?gren-Larsson Syndrome"],"prefix":"10.3343","volume":"38","author":[{"given":"Je Yeon","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shin-Hye","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mi-Jung","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soung Hee","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Radiology, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Woo Ho","family":"Cho","sequence":"additional","affiliation":[{"name":"Department of Radiology, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, 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":"Su Jeong","family":"You","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"27150","reference":[{"key":"10.3343\/alm.2018.38.1.80_ref1","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1086\/302681","volume":"65","author":"Rizzo","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.3343\/alm.2018.38.1.80_ref2","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1016\/S0002-9394(00)00576-6","volume":"130","author":"Willemsen","year":"2000","journal-title":"Am J Ophthalmol"},{"key":"10.3343\/alm.2018.38.1.80_ref3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ymgme.2006.08.006","volume":"90","author":"Rizzo","year":"2007","journal-title":"Mol Genet Metab"},{"key":"10.3343\/alm.2018.38.1.80_ref4","first-page":"1757","volume":"37","author":"Lee","year":"1994","journal-title":"J Korean Pediatr Soc"},{"key":"10.3343\/alm.2018.38.1.80_ref5","doi-asserted-by":"crossref","first-page":"71","DOI":"10.5021\/ad.1995.7.1.71","volume":"7","author":"Lee","year":"1995","journal-title":"Ann Dermatol"},{"key":"10.3343\/alm.2018.38.1.80_ref6","first-page":"1605","volume":"36","author":"Shin","year":"1995","journal-title":"J Korean Ophthalmol Soc"},{"key":"10.3343\/alm.2018.38.1.80_ref7","first-page":"1078","volume":"36","author":"Lee","year":"1998","journal-title":"Korean J Dermatol"},{"key":"10.3343\/alm.2018.38.1.80_ref8","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1046\/j.1523-1747.2000.00960-5.x","volume":"114","author":"Aoki","year":"2000","journal-title":"J Invest Dermatol"},{"key":"10.3343\/alm.2018.38.1.80_ref9","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.3343\/alm.2018.38.1.80_ref10","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.ajhg.2017.01.004","volume":"100","author":"Li","year":"2017","journal-title":"Am J Hum Genet"}],"container-title":["Annals of Laboratory Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/synapse.koreamed.org\/pdf\/10.3343\/alm.2018.38.1.80","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/synapse.koreamed.org\/DOIx.php?id=10.3343\/alm.2018.38.1.80","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/synapse.koreamed.org\/DOIx.php?id=10.3343\/alm.2018.38.1.80","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,30]],"date-time":"2020-10-30T03:17:17Z","timestamp":1604027837000},"score":1,"resource":{"primary":{"URL":"http:\/\/annlabmed.org\/journal\/view.html?doi=10.3343\/alm.2018.38.1.80"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,28]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1,28]]}},"alternative-id":["10.3343\/alm.2018.38.1.80"],"URL":"https:\/\/doi.org\/10.3343\/alm.2018.38.1.80","relation":{},"ISSN":["2234-3806","2234-3814"],"issn-type":[{"value":"2234-3806","type":"print"},{"value":"2234-3814","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1,28]]},"assertion":[{"value":"http:\/\/annlabmed.org\/journal\/view.html?doi=10.3343\/alm.2018.38.1.80","URL":"http:\/\/annlabmed.org\/journal\/view.html?doi=10.3343\/alm.2018.38.1.80","name":"the_journal","label":"Ann Lab Med","group":{"name":"multiple_resolution","label":"Full text available at:"}},{"value":"2017-01-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-06-01","order":1,"name":"revised","label":"Revised","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-09-16","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-10-23","order":3,"name":"published","label":"Online First","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-01-28","order":4,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}},{"value":"\u00a9 2018 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\/4.0) 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\/4.0"},"group":{"name":"Copyright_and_licensing","label":"Copyright and Licensing"}}]}}