{"created":"2023-06-20T15:49:34.728098+00:00","id":4159,"links":{},"metadata":{"_buckets":{"deposit":"9e8c60ac-3c38-4ccd-bbd3-8522bca9a1da"},"_deposit":{"created_by":4,"id":"4159","owners":[4],"pid":{"revision_id":0,"type":"depid","value":"4159"},"status":"published"},"_oai":{"id":"oai:hama-med.repo.nii.ac.jp:00004159","sets":["1:75:95"]},"author_link":["12910","12911","12912","12913","12914","12915","12916","12917","12918"],"item_3_biblio_info_5":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2023-03-15","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"44","bibliographicPageStart":"36","bibliographicVolumeNumber":"3","bibliographic_titles":[{"bibliographic_title":"浜松医科大学小児科学雑誌","bibliographic_titleLang":"ja"},{"bibliographic_title":"Hamamatsu Journal of Pediatrics","bibliographic_titleLang":"en"}]}]},"item_3_description_9":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"遊離シアル酸蓄積症(ree sialic acid storage disorder : FSASD)は,膜輸送タンパクであるシアリン(sialin)をコードするSLC17Aの両アレルバリアントにより発症し,髄鞘低形成,発達遅滞などを引き起こす非常に稀なライソゾーム病である.症例は4歳2か月姉と2歳5か月弟の姉弟例.共に発達遅滞,特徴的顔貌,筋緊張低下を認めた.姉は生後1か月時に発症し乳児期に眼振が一過性に出現した.姉弟共に頭部MRIにて髄鞘形成不全,脳梁低形成,小脳虫部低形成を認めた.エクソーム解析によりSLC17A5に両親由来ホモ接合性バリアント c.116G>A, p.(Arg39His)を同定した.Arg39HisはFSASD患者の8割が持つArg39Cysと同じ位置の異なるアミノ酸置換である.SLC17A5は大脳白質形成不全症の原因として重要であり,エクソーム解析が診断に有用である.","subitem_description_language":"ja","subitem_description_type":"Abstract"}]},"item_3_publisher_6":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"浜松医科大学小児科学雑誌編集部","subitem_publisher_language":"ja"}]},"item_3_relation_27":{"attribute_name":"医中誌論文ID","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"2024010989","subitem_relation_type_select":"ICHUSHI"}}]},"item_3_source_id_20":{"attribute_name":"EISSN","attribute_value_mlt":[{"subitem_source_identifier":"2436-2433","subitem_source_identifier_type":"EISSN"}]},"item_3_version_type_32":{"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_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open 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Yurika","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"12913","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"河崎, 知子","creatorNameLang":"ja"},{"creatorName":"KAWASAKI, Tomoko","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"12914","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"鶴井, 聡","creatorNameLang":"ja"},{"creatorName":"TSURUI, Satoshi","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"12915","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"才津, 浩智","creatorNameLang":"ja"},{"creatorName":"SAITSU, Hirotomo","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"12916","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"緒方, 勤","creatorNameLang":"ja"},{"creatorName":"OGATA, Tsutomu","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"12917","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"福田, 冬季子","creatorNameLang":"ja"},{"creatorName":"FUKUDA, Tokiko","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"12918","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":"2023-03-30"}],"displaytype":"detail","filename":"hjop_3_1_36.pdf","filesize":[{"value":"940.7 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