{"created":"2023-06-20T15:50:32.646377+00:00","id":3350,"links":{},"metadata":{"_buckets":{"deposit":"67e72329-b7ae-4116-a351-34430dc14dd5"},"_deposit":{"created_by":28,"id":"3350","owners":[28],"pid":{"revision_id":0,"type":"depid","value":"3350"},"status":"published"},"_oai":{"id":"oai:redcross.repo.nii.ac.jp:00003350","sets":["172:173:175"]},"author_link":["8028","8026","8041","8022","8036","8040","8031","8027","8044","8023","8037","8042","8030","8032","8043","8034","8025","8033","8038","8024","8021","8029","8035","8039"],"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2012-12","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"97","bibliographicPageStart":"93","bibliographicVolumeNumber":"30","bibliographic_titles":[{"bibliographic_title":"日本赤十字社和歌山医療センター医学雑誌"},{"bibliographic_title":"Medical Journal of Japanese Red Cross Society Wakayama Medical Center","bibliographic_titleLang":"en"}]}]},"item_10001_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"シトリンとは主に肝臓のミトコンドリア内膜に局在するアスパラギン酸・グルタミン酸輸送体蛋白であり、シトリン欠損症では,新生児期に肝内胆汁うっ滞による遷延性黄疸・体重増加不良・灰白色便などの症状を認めるが、乳幼児期以降は成人に発症するまで見かけ上健康な経過をたどり、また脂質を好み糖質を嫌う特殊な食嗜好を有するなど、特異な経過をたどる疾患である。症例は在胎週数35週3日,体重1824gで出生した女児。哺乳不良と体重増加不良を認めていたが、新生児マススクリーニング検査で高ガラクトース血症、タンデムマス法で高シトルリン血症を指摘されたため、遺伝子解析を実施しシトリン欠損症と診断された。中鎖脂肪酸(MCT)ミルクに変更し、哺乳意欲と体重増加の改善が得られた。その後の食嗜好の経過は典型的であった。3歳9ヵ月で、身長は-2.0SDとやや低身長だが発達において異常は認めていない。QOL向上には本疾患の理解と患者家族への指導が重要であり、早期の診断が不可欠である。早期診断に有用なタンデムマス法の今後さらなる拡大に期待する。","subitem_description_type":"Abstract"}]},"item_10001_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{}],"names":[{"name":"Fukao, Daisuke"}]},{"nameIdentifiers":[{}],"names":[{"name":"Iba, Norihito"}]},{"nameIdentifiers":[{}],"names":[{"name":"Takahashi, Toshie"}]},{"nameIdentifiers":[{},{}],"names":[{"name":"Nukada, Takayuki"}]},{"nameIdentifiers":[{}],"names":[{"name":"Komiya, Kei"}]},{"nameIdentifiers":[{}],"names":[{"name":"Nakaji, Michiko"}]},{"nameIdentifiers":[{}],"names":[{"name":"Inoue, Mihoko"}]},{"nameIdentifiers":[{}],"names":[{"name":"Hara, Shigeto"}]},{"nameIdentifiers":[{}],"names":[{"name":"Mamada, Mitsukazu"}]},{"nameIdentifiers":[{}],"names":[{"name":"Hamahata, Keigo"}]},{"nameIdentifiers":[{}],"names":[{"name":"Yoshida, Akira"}]},{"nameIdentifiers":[{}],"names":[{"name":"Momoi, Toru"}]}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"日本赤十字社和歌山医療センター"}]},"item_10001_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"1341-9927","subitem_source_identifier_type":"ISSN"}]},"item_10001_version_type_20":{"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":"深尾, 大輔"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"井庭, 憲人"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"高橋, 俊恵"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"額田, 貴之"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"古宮, 圭"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"中治, 倫子"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"井上, 美保子"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"原, 茂登"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"儘田, 光和"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"濱畑, 啓悟"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"吉田, 晃"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"百井, 亨"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2013-12-01"}],"displaytype":"simple","filename":"14(深尾大輔).pdf","filesize":[{"value":"758.9 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"Wakayama30_14","url":"https://redcross.repo.nii.ac.jp/record/3350/files/14(深尾大輔).pdf"},"version_id":"bd042184-bf6e-46c0-934b-3d2196f06626"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"シトリン欠損症","subitem_subject_scheme":"Other"},{"subitem_subject":"アミノ酸代謝異常","subitem_subject_scheme":"Other"},{"subitem_subject":"先天性代謝異常症","subitem_subject_scheme":"Other"},{"subitem_subject":"タンデムマス法","subitem_subject_scheme":"Other"},{"subitem_subject":"タンデム質量分析","subitem_subject_scheme":"Other"},{"subitem_subject":"遺伝子解析","subitem_subject_scheme":"Other"},{"subitem_subject":"新生児マススクリーニング","subitem_subject_scheme":"Other"},{"subitem_subject":"新生児スクリーニング","subitem_subject_scheme":"Other"},{"subitem_subject":"新生児肝内胆汁うっ滞症（NICCD）","subitem_subject_scheme":"Other"},{"subitem_subject":"Calcium-Binding Proteins","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"NICCD","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"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を契機に診断に至ったシトリン欠損症の一例","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を契機に診断に至ったシトリン欠損症の一例"}]},"item_type_id":"10001","owner":"28","path":["175"],"pubdate":{"attribute_name":"公開日","attribute_value":"2013-04-25"},"publish_date":"2013-04-25","publish_status":"0","recid":"3350","relation_version_is_last":true,"title":["新生児マススクリーニングを契機に診断に至ったシトリン欠損症の一例"],"weko_creator_id":"28","weko_shared_id":-1},"updated":"2023-06-20T19:31:01.275044+00:00"}