{"created":"2023-06-19T10:21:38.549443+00:00","id":617,"links":{},"metadata":{"_buckets":{"deposit":"43c091e9-97fa-444c-85e9-0df6c0034620"},"_deposit":{"created_by":12,"id":"617","owners":[12],"pid":{"revision_id":0,"type":"depid","value":"617"},"status":"published"},"_oai":{"id":"oai:saitama-med.repo.nii.ac.jp:00000617","sets":["9:7:95"]},"author_link":["2137","2136","2138","2139","2142","2141","2140","2143"],"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2017-08-31","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"26","bibliographicPageStart":"22","bibliographicVolumeNumber":"44","bibliographic_titles":[{"bibliographic_title":"埼玉医科大学雑誌"},{"bibliographic_title":"J Saitama Medical University","bibliographic_titleLang":"en"}]}]},"item_10001_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"　在胎38週6日，出生体重2856gで出生した男児．出生直後より著明な筋緊張低下を認め，人工呼吸管理を行った．前額突出，大きな大泉門，鞍鼻，眼間開離，小顎などの特異的顔貌，腎皮質嚢胞，関節内の石灰化，肝腫大と高度の肝機能異常を認め，血中極長鎖脂肪酸が著明に増加していたことより，Zellweger 症候群と診断した．Zellweger 症候群は，根本的な治療がなく，多くが1歳までに死亡する生命予後が不良な疾患である．高度の医療的ケアを必要としたが，家族の希望により在宅療養へ移行し，在宅での看取りを行った．新生児マス・スクリーニング検査や一般的な代謝異常症のスクリーニングで異常を認めなくても，筋緊張低下と肝腫大，肝機能障害などの所見がある場合，Zellwegerスペクトラムを念頭に置き，早期に血中極長鎖脂肪酸の測定を行うことが重要であると考えられた． ","subitem_description_type":"Abstract"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"埼玉医科大学医学会"}]},"item_10001_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN0009506X 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ユウイチ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"2139","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Hasegawa, Tomohiko","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"2140","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Yamazaki, Kazuko","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"2141","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Shimozawa, Nobuyuki","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"2142","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Sakai, Yuichi","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"2143","nameIdentifierScheme":"WEKO"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2017-11-27"}],"displaytype":"detail","filename":"jsms44_022_026.pdf","filesize":[{"value":"1.1 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infant","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"hepatomegaly","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"hypertransaminasemia","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"very long chain fatty acids (VLCFA)","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":"Floppy infant，肝腫大，肝機能異常から乳児期に診断したZellweger 症候群の1例","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Floppy infant，肝腫大，肝機能異常から乳児期に診断したZellweger 症候群の1例"},{"subitem_title":"A floppy infant diagnosed with Zellweger syndrome presenting with hepatomegaly and hypertransaminasemia","subitem_title_language":"en"}]},"item_type_id":"10001","owner":"12","path":["95"],"pubdate":{"attribute_name":"公開日","attribute_value":"2017-11-27"},"publish_date":"2017-11-27","publish_status":"0","recid":"617","relation_version_is_last":true,"title":["Floppy infant，肝腫大，肝機能異常から乳児期に診断したZellweger 症候群の1例"],"weko_creator_id":"12","weko_shared_id":-1},"updated":"2023-06-19T10:34:42.923879+00:00"}