{"created":"2025-02-06T13:40:15.309545+00:00","id":2000497,"links":{},"metadata":{"_buckets":{"deposit":"b3d8dea1-f4d6-46a8-aa63-71b849b6b85c"},"_deposit":{"created_by":14,"id":"2000497","owner":"14","owners":[14],"pid":{"revision_id":0,"type":"depid","value":"2000497"},"status":"published"},"_oai":{"id":"oai:dmu.repo.nii.ac.jp:02000497","sets":["223:1738816222681"]},"author_link":[],"control_number":"2000497","item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2024-12-25","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"4","bibliographicPageEnd":"302","bibliographicPageStart":"298","bibliographicVolumeNumber":"3","bibliographic_titles":[{"bibliographic_title":"Dokkyo Medical Journal","bibliographic_titleLang":"en"}]}]},"item_10001_description_6":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"We report a case of 1-year-old Japanese girl exhibiting severe developmental delay, microcephaly, gastroesophageal reflux, and failure to thrive. Whole exome sequencing revealed likely pathogenic, novel compound heterozygous AARS1 missense variants, inherited from her parents. In cases of severe developmental delay with white matter abnormalities and feeding difficulties, AARS1 abnormalities should be listed as a differential disease.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Dokkyo Medical Society"}]},"item_10001_relation_14":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.51040/dkmj.2023-054","subitem_relation_type_select":"DOI"}}]},"item_10001_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AA12941861","subitem_source_identifier_type":"NCID"}]},"item_10001_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"2436-522X","subitem_source_identifier_type":"EISSN"}]},"item_10001_text_33":{"attribute_name":"記事種別","attribute_value_mlt":[{"subitem_text_value":"Case Report"}]},"item_10001_version_type_20":{"attribute_name":"出版タイプ","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 access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_abf2"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Sasaki, Susumu","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Itabashi, Hisashi","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Minowa, Yoshitaka","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Miyayama, Chiharu","creatorNameLang":"ja"}]},{"creatorNames":[{"creatorName":"Oto, Yuji","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Nitta, Akihisa","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Yamada, Mamiko","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Suzuki, Hisato","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Kosaki, Kenjiro","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Matsubara, Tomoyo","creatorNameLang":"en"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2025-02-07"}],"filename":"DKMJ-3-4-7.pdf","filesize":[{"value":"544 KB"}],"format":"application/pdf","licensetype":"license_5","mimetype":"application/pdf","url":{"url":"https://dmu.repo.nii.ac.jp/record/2000497/files/DKMJ-3-4-7.pdf"},"version_id":"ce0c0f0e-8784-46b4-af79-6c73f894827d"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"whole exome sequencing","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"failure to thrive","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"hypertonia","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"microcephaly","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"missense variant","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"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":"Novel Variants in AARS1-related White Matter Disease: A Case Report","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Novel Variants in AARS1-related White Matter Disease: A Case Report","subitem_title_language":"en"}]},"item_type_id":"10001","owner":"14","path":["1738816222681"],"publish_date":"2025-02-06","publish_status":"0","recid":"2000497","relation_version_is_last":true,"title":["Novel Variants in AARS1-related White Matter Disease: A Case Report"],"weko_creator_id":"14","weko_shared_id":-1},"updated":"2025-04-04T04:47:11.032830+00:00"}