{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:57:27Z","timestamp":1781081847779,"version":"3.54.1"},"reference-count":15,"publisher":"Tohoku University Medical Press","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Tohoku J. Exp. Med."],"published-print":{"date-parts":[[2003]]},"DOI":"10.1620\/tjem.200.47","type":"journal-article","created":{"date-parts":[[2004,10,1]],"date-time":"2004-10-01T06:06:03Z","timestamp":1096610763000},"page":"47-53","source":"Crossref","is-referenced-by-count":18,"title":["Detection of PHKA2 Gene Mutation in Four Japanese Patients with Hepatic Phosphorylase Kinase Deficiency"],"prefix":"10.1620","volume":"200","author":[{"given":"Kyoko","family":"Ban","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Neonatology and Congenital Disorders, Nagoya City University, Graduate School of Medical Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kohachiro","family":"Sugiyama","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Neonatology and Congenital Disorders, Nagoya City University, Graduate School of Medical Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"Goto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Neonatology and Congenital Disorders, Nagoya City University, Graduate School of Medical Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumihiko","family":"Mizutani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Neonatology and Congenital Disorders, Nagoya City University, Graduate School of Medical Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hajime","family":"Togari","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Neonatology and Congenital Disorders, Nagoya City University, Graduate School of Medical Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"622","reference":[{"key":"1","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1093\/hmg\/5.5.653","volume":"5","author":"Burwinkel, B., Burwinkel, B., Bakker, H.D., Deutsch, J., Lozano, M.J., Marie, I. &amp; Killiman, M.W.","year":"1996","journal-title":"Hum. Mol. Genet.","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"7","key":"2","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1093\/hmg\/6.7.1109","volume":"6","year":"1997","journal-title":"Hum. Mol. Genet.","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"1","key":"3","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1093\/hmg\/7.1.149","volume":"7","year":"1998","journal-title":"Hum. Mol. Genet.","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1322"},{"key":"5","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1093\/hmg\/4.1.77","volume":"4","author":"Hendrickx, J., Coucke, P., Dams, E., Lee, P., Odi&egrave;vre, M., Corbee, L., Fernandes, J.F. &amp; Willems, P.J.","year":"1995","journal-title":"Hum. Mol. Genet.","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"key":"6","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1093\/hmg\/5.5.649","volume":"5","author":"Hendrickx, J., Dams, E., Coucke, P., Lee, P., Fernandes, J. &amp; Willems, P.J.","year":"1996","journal-title":"Hum. Mol. Genet.","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1086\/302399"},{"issue":"3","key":"8","first-page":"505","volume":"36","year":"1995","journal-title":"Biochem. Mol. Biol. Int.","ISSN":"https:\/\/id.crossref.org\/issn\/1039-9712","issn-type":"print"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005422819207"},{"issue":"3","key":"10","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/ng1196-337","volume":"14","year":"1996","journal-title":"Nat. Genet.","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"key":"11","first-page":"85","volume":"24","author":"Rudolfov&aacute;, J., Slov&aacute;ckov&aacute;, R., Trbusek, M., Peskov&aacute;, K., Svt&rsquo;astn&aacute;, S. &amp; Koz&aacute;k L.","year":"2001","journal-title":"J. Inherit. Metab. Dis.","ISSN":"https:\/\/id.crossref.org\/issn\/0141-8956","issn-type":"print"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1997.7006"},{"key":"13","first-page":"381","volume":"56","author":"Van den Berg, I.E.T., Van Burden, E.A.C.M., Malingr&eacute;, H.E.M., Van Amstel, H.K.P., Poll-The, B.T., Smeitink, J.A.M., Lamers, W.H. &amp; Berger, R.","year":"1995","journal-title":"Am. J. Hum. Genet.","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"key":"14","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1086\/515502","volume":"61","author":"Van den Berg, I.E.T., Van Beurden, E.A.C.M., De Klerk, J.B.C., Van Diggelen, O.P., Malingre, H.E.M., Boer, M.M. &amp; Berger, R.","year":"1997","journal-title":"Am. J. Hum. Genet.","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"key":"15","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1007\/BF02106291","volume":"149","author":"Willems, P.J., Gerver, W.J.M., Berger, R. &amp; Fernandes, J.","year":"1990","journal-title":"Eur. J. Pediatr.","ISSN":"https:\/\/id.crossref.org\/issn\/0340-6199","issn-type":"print"}],"container-title":["The Tohoku Journal of Experimental Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.jstage.jst.go.jp\/article\/tjem\/200\/1\/200_1_47\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,28]],"date-time":"2021-04-28T19:08:12Z","timestamp":1619636892000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.jstage.jst.go.jp\/article\/tjem\/200\/1\/200_1_47\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003]]}},"URL":"https:\/\/doi.org\/10.1620\/tjem.200.47","relation":{},"ISSN":["0040-8727","1349-3329"],"issn-type":[{"value":"0040-8727","type":"print"},{"value":"1349-3329","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003]]}}}