{"created":"2024-10-31T01:59:37.072789+00:00","id":2020233,"links":{},"metadata":{"_buckets":{"deposit":"536d6b8a-f7e7-48ab-b167-3652884138ce"},"_deposit":{"created_by":7,"id":"2020233","owners":[7],"pid":{"revision_id":0,"type":"depid","value":"2020233"},"status":"published"},"_oai":{"id":"oai:ocu-omu.repo.nii.ac.jp:02020233","sets":["1623632832836:1721355153493"]},"author_link":[],"item_1617186331708":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Spectrum of Glutamate Dehydrogenase Mutations in Japanese Patients with Congenital Hyperinsulinism and Hyperammonemia Syndrome","subitem_title_language":"en"}]},"item_1617186419668":{"attribute_name":"作成者","attribute_type":"creator","attribute_value_mlt":[{"creatorAffiliations":[{"affiliationNames":[{"affiliationName":"Osaka City University","affiliationNameLang":"en"}]}],"creatorNames":[{"creatorName":"Aso, Kazuyoshi","creatorNameLang":"en"},{"creatorName":"アソウ, カズヨシ","creatorNameLang":"ja-Kana"},{"creatorName":"麻生, 和良","creatorNameLang":"ja"}]},{"creatorAffiliations":[{"affiliationNames":[{"affiliationName":"Osaka City University","affiliationNameLang":"en"}]}],"creatorNames":[{"creatorName":"Okano, Yoshiyuki","creatorNameLang":"en"},{"creatorName":"オカノ, ヨシユキ","creatorNameLang":"ja-Kana"},{"creatorName":"岡野, 善行","creatorNameLang":"ja"}],"nameIdentifiers":[{"nameIdentifier":"1000060231213","nameIdentifierScheme":"KAKEN2","nameIdentifierURI":"https://nrid.nii.ac.jp/nrid/1000060231213"},{"nameIdentifier":"read0020532","nameIdentifierScheme":"RESEARCHMAP","nameIdentifierURI":"https://researchmap.jp/read0020532"}]},{"creatorAffiliations":[{"affiliationNames":[{"affiliationName":"Osaka City University","affiliationNameLang":"en"}]}],"creatorNames":[{"creatorName":"Takeda, Taisuke","creatorNameLang":"en"},{"creatorName":"タケダ, タイスケ","creatorNameLang":"ja-Kana"},{"creatorName":"武田, 泰輔","creatorNameLang":"ja"}]},{"creatorAffiliations":[{"affiliationNames":[{"affiliationName":"Tohoku University","affiliationNameLang":"en"}]}],"creatorNames":[{"creatorName":"Sakamoto, Osamu","creatorNameLang":"en"},{"creatorName":"サカモト, オサム","creatorNameLang":"ja-Kana"},{"creatorName":"坂本, 修","creatorNameLang":"ja"}],"nameIdentifiers":[{"nameIdentifier":"1000020333809","nameIdentifierScheme":"KAKEN2","nameIdentifierURI":"https://nrid.nii.ac.jp/nrid/1000020333809"},{"nameIdentifier":"read0075713","nameIdentifierScheme":"RESEARCHMAP","nameIdentifierURI":"https://researchmap.jp/read0075713"}]},{"creatorAffiliations":[{"affiliationNames":[{"affiliationName":"Yokkaichi Municipal Hospital","affiliationNameLang":"en"}]}],"creatorNames":[{"creatorName":"Ban, Kyoko","creatorNameLang":"en"},{"creatorName":"バン, キョウコ","creatorNameLang":"ja-Kana"},{"creatorName":"坂, 京子","creatorNameLang":"ja"}],"nameIdentifiers":[{"nameIdentifier":"1000090285213","nameIdentifierScheme":"KAKEN2","nameIdentifierURI":"https://nrid.nii.ac.jp/nrid/1000090285213"}]},{"creatorAffiliations":[{"affiliationNames":[{"affiliationName":"International University of Health and Welfare Hospital","affiliationNameLang":"en"}]}],"creatorNames":[{"creatorName":"Iida, Kazumi","creatorNameLang":"en"},{"creatorName":"イイダ, カズミ","creatorNameLang":"ja-Kana"}]},{"creatorAffiliations":[{"affiliationNames":[{"affiliationName":"Osaka City University","affiliationNameLang":"en"}]}],"creatorNames":[{"creatorName":"Yamano, Tsunekazu","creatorNameLang":"en"},{"creatorName":"ヤマノ, ツネカズ","creatorNameLang":"ja-Kana"},{"creatorName":"山野, 恒一","creatorNameLang":"ja"}],"nameIdentifiers":[{"nameIdentifier":"1000020093172","nameIdentifierScheme":"KAKEN2","nameIdentifierURI":"https://nrid.nii.ac.jp/nrid/1000020093172"},{"nameIdentifier":"read0018782","nameIdentifierScheme":"RESEARCHMAP","nameIdentifierURI":"https://researchmap.jp/read0018782"}]},{"creatorAffiliations":[{"affiliationNames":[{"affiliationName":"Osaka City University","affiliationNameLang":"en"}]}],"creatorNames":[{"creatorName":"Shintaku, Haruo","creatorNameLang":"en"},{"creatorName":"シンタク, ハルオ","creatorNameLang":"ja-Kana"},{"creatorName":"新宅, 治夫","creatorNameLang":"ja"}],"nameIdentifiers":[{"nameIdentifier":"1000000206319","nameIdentifierScheme":"KAKEN2","nameIdentifierURI":"https://nrid.nii.ac.jp/nrid/1000000206319"},{"nameIdentifier":"0000-0002-1677-1593","nameIdentifierScheme":"ORCID","nameIdentifierURI":"https://orcid.org/0000-0002-1677-1593"}]}]},"item_1617186499011":{"attribute_name":"権利情報","attribute_value_mlt":[{"subitem_rights":"This article may be downloaded for personal use only. Any other use requires prior permission of the author and Osaka City Medical Association.","subitem_rights_language":"en"}]},"item_1617186609386":{"attribute_name":"主題","attribute_value_mlt":[{"subitem_subject":"Hyperinsulinism","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"hyperammonemia","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Glutamate dehydrogenase","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"GLUD1","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Mutation","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Genotype-phenotype correlation","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"item_1617186626617":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"Introduction : Congenital hyperinsulinism and hyperammonemia (CHH) is caused by gain of function of glutamate dehydrogenase (GDH). The genetic abnormalities are known to be located in three specific regions on the GDH protein. We describe here three different missense mutations identified in five new Japanese patients with CHH. And to study the genotype-phenotype correlations in patients with GLUD1 mutations, we analyzed previously reported Japanese cases.  / Methods : An Epstein-Barr virus-transformed lymphoblastoid cell line was established from the 5 patients and control subjects, and was used for enzymatic and molecular analyses....","subitem_description_language":"en","subitem_description_type":"Abstract"},{"subitem_description":"This study was supported in part by grants from the Ministry of Education, Culture, Sports, Science, and Technology of Japan, by grants from the Ministry of Health Sciences and Welfare of Japan","subitem_description_language":"en","subitem_description_type":"Other"}]},"item_1617186643794":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"OSAKA CITY MEDICAL ASSOCIATION","subitem_publisher_language":"en"}]},"item_1617186920753":{"attribute_name":"収録物識別子","attribute_value_mlt":[{"subitem_source_identifier":"0030-6096","subitem_source_identifier_type":"ISSN"}]},"item_1617187056579":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2011-06","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"9","bibliographicPageStart":"1","bibliographicVolumeNumber":"57","bibliographic_titles":[{"bibliographic_title":"Osaka City Medical Journal","bibliographic_titleLang":"en"}]}]},"item_1617258105262":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_1617265215918":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_1617353299429":{"attribute_name":"関連情報","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"AA00765896","subitem_relation_type_select":"NCID"}}]},"item_1722232185104":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2018-07-26"}],"displaytype":"detail","filename":"00306096-57-1-1.pdf","filesize":[{"value":"161.1 KB"}],"format":"application/pdf","mimetype":"application/pdf","url":{"label":"本文","objectType":"fulltext","url":"https://ocu-omu.repo.nii.ac.jp/record/2020233/files/00306096-57-1-1.pdf"},"version_id":"57cd2f5d-e81d-43ac-aeb2-952e0fdfd428"}]},"item_1725590125188":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_title":"Spectrum of Glutamate Dehydrogenase Mutations in Japanese Patients with Congenital Hyperinsulinism and Hyperammonemia Syndrome","item_type_id":"40002","owner":"7","path":["1721355153493"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2018-07-26"},"publish_date":"2018-07-26","publish_status":"0","recid":"2020233","relation_version_is_last":true,"title":["Spectrum of Glutamate Dehydrogenase Mutations in Japanese Patients with Congenital Hyperinsulinism and Hyperammonemia Syndrome"],"weko_creator_id":"7","weko_shared_id":-1},"updated":"2024-10-31T01:59:45.346513+00:00"}