{"created":"2023-05-15T09:03:50.594558+00:00","id":8196,"links":{},"metadata":{"_buckets":{"deposit":"0b5fb97c-ed18-41fc-8660-a48f09435367"},"_deposit":{"created_by":15,"id":"8196","owners":[15],"pid":{"revision_id":0,"type":"depid","value":"8196"},"status":"published"},"_oai":{"id":"oai:sapmed.repo.nii.ac.jp:00008196","sets":["1674:1677:1681"]},"author_link":["6976","6977","6978","6979","6980","6981","6982","6983","6984"],"item_2_alternative_title_18":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"Genetic Diagnostic Scheme for Adult-Onset Type 2 Citrullinemia Using Dried Blood Samples"}]},"item_2_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2003","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"46","bibliographicPageStart":"41","bibliographicVolumeNumber":"30","bibliographic_titles":[{"bibliographic_title":"札幌市衛生研究所年報 = Annual Report of Sapporo City Institute of Public Health"}]}]},"item_2_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"成人発症Ⅱ型シトルリン血症（シトリン欠損症）は, 新生児マス・スクリーニング検査でガラクトース血症, 血中メチオニン, フェニルアラニンなどの高値を契機に発見されることが多いが, スクリーニングで異常が判明した時点で他の疾患と区別することは困難である。本症例の中には乳幼児期から肝不全を来たす例があり, シトリン欠損症を念頭に置いたろ紙血によるスクリーニングは重要性を増すものと考えられる。今回, ろ紙血検体を用いて同病責任遺伝子SLC25A13の主要な病因変異を検索する方法について検討した。主にPCR-restriction fragment-length polymorphism法を用い, 本症の90%以上を占める7変異遺伝子を簡便に検出する方法を開発した。","subitem_description_type":"Abstract"}]},"item_2_publisher_32":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"札幌市衛生研究所"}]},"item_2_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0917-0294","subitem_source_identifier_type":"ISSN"}]},"item_2_version_type_15":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"野町, 祥介"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"田上, 泰子"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"中澤, 恵実理"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"水嶋, 好清"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"尾崎, 恒一"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"藤田, 晃三"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"窪田, 満"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"長尾, 雅悦"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"山口, 昭弘"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2018-07-21"}],"displaytype":"detail","filename":"n091702943041.pdf","filesize":[{"value":"103.0 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"n091702943041.pdf","url":"https://sapmed.repo.nii.ac.jp/record/8196/files/n091702943041.pdf"},"version_id":"a81f097f-22e0-40d8-a7f0-1b045c396720"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"ろ紙血によるシトリン欠損症遺伝子診断","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"ろ紙血によるシトリン欠損症遺伝子診断","subitem_title_language":"ja"}]},"item_type_id":"2","owner":"15","path":["1681"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2009-03-24"},"publish_date":"2009-03-24","publish_status":"0","recid":"8196","relation_version_is_last":true,"title":["ろ紙血によるシトリン欠損症遺伝子診断"],"weko_creator_id":"15","weko_shared_id":-1},"updated":"2023-12-13T04:40:41.964854+00:00"}