{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:53:13Z","timestamp":1761101593570},"reference-count":2,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2000,7,1]],"date-time":"2000-07-01T00:00:00Z","timestamp":962409600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2000,7]]},"DOI":"10.1023\/a:1005632818722","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T23:07:17Z","timestamp":1040512037000},"page":"527-528","source":"Crossref","is-referenced-by-count":2,"title":["Identification of a 5\u2032 splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa"],"prefix":"10.1002","volume":"23","author":[{"given":"S.","family":"Uotani","sequence":"first","affiliation":[{"name":"First Department of Internal Medicine Nagasaki University School of Medicine  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Yamasaki","sequence":"additional","affiliation":[{"name":"First Department of Internal Medicine Nagasaki University School of Medicine  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Takino","sequence":"additional","affiliation":[{"name":"First Department of Internal Medicine Nagasaki University School of Medicine  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Kawasaki","sequence":"additional","affiliation":[{"name":"First Department of Internal Medicine Nagasaki University School of Medicine  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Matsuo","sequence":"additional","affiliation":[{"name":"First Department of Internal Medicine Nagasaki University School of Medicine  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Yamasaki","sequence":"additional","affiliation":[{"name":"First Department of Internal Medicine Nagasaki University School of Medicine  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Jinno","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Nagasaki University  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Niikawa","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Nagasaki University  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology and Neuromuscular Laboratory Hamamatsu City Medical Center for Developmental Medicine  Hamakita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Sugie","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology and Neuromuscular Laboratory Hamamatsu City Medical Center for Developmental Medicine  Hamakita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"First Department of Internal Medicine Nagasaki University School of Medicine  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Eguchi","sequence":"additional","affiliation":[{"name":"First Department of Internal Medicine Nagasaki University School of Medicine  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2000,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0611"},{"key":"e_1_2_1_3_1","first-page":"935","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Chen Y\u2010T","year":"1995"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1005632818722","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1005632818722","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T20:22:31Z","timestamp":1694809351000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1005632818722"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,7]]},"references-count":2,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2000,7]]}},"alternative-id":["10.1023\/A:1005632818722"],"URL":"https:\/\/doi.org\/10.1023\/a:1005632818722","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,7]]}}}