{"created":"2023-05-15T09:03:50.850566+00:00","id":8202,"links":{},"metadata":{"_buckets":{"deposit":"9946d3a0-6a7d-4454-8b87-06701a1764a9"},"_deposit":{"created_by":15,"id":"8202","owners":[15],"pid":{"revision_id":0,"type":"depid","value":"8202"},"status":"published"},"_oai":{"id":"oai:sapmed.repo.nii.ac.jp:00008202","sets":["1674:1677:1681"]},"author_link":["7008","7009","7010","7011","7012","7013","7014","7015","7016"],"item_2_alternative_title_18":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"A Genetically Diagnosed Infant with Citrin Deficiency Suspected by Neonatal Mass Screening"}]},"item_2_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2003","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"40","bibliographicPageStart":"35","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":"シトリン欠損症は新生児マス・スクリーニング検査においてガラクトース, メチオニン, フェニルアラニンなどの高値を契機に見出しうる遺伝性疾患の一つである。患児は, 新生児マス・スクリーニング初回検査でフェニルアラニン高値を示し, 同じ検体を用いた21種のアミノ酸分析でシトルリン高値を示したことから本疾患が強く疑われた。その後綿密に経過観察が行われ, 低蛋白血症や凝固因子低下を認めたものの適切に治療された。患児は生後54日目の遺伝子検査によりシトリン欠損症と確定診断された。本症例において, 新生時期から生後1歳3カ月まで, 血中アミノ酸値とガラクトース値の変動を観察できた。","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":"田上, 泰子"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"野町, 祥介"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"中澤, 恵実理"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"桶川, なをみ"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"福田, 久美子"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"水嶋, 好清"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"尾崎, 恒一"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"藤田, 晃三"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"日浦, 典子"}],"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":"n091702943035.pdf","filesize":[{"value":"69.3 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"n091702943035.pdf","url":"https://sapmed.repo.nii.ac.jp/record/8202/files/n091702943035.pdf"},"version_id":"499d65b6-9130-4b60-84ec-c2becd805671"}]},"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":"新生児マス・スクリーニングで疑われ乳児早期に遺伝子診断されたシトリン欠損症の1例","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"新生児マス・スクリーニングで疑われ乳児早期に遺伝子診断されたシトリン欠損症の1例","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":"8202","relation_version_is_last":true,"title":["新生児マス・スクリーニングで疑われ乳児早期に遺伝子診断されたシトリン欠損症の1例"],"weko_creator_id":"15","weko_shared_id":-1},"updated":"2023-12-13T04:40:42.128921+00:00"}