{"created":"2023-05-15T16:30:06.800296+00:00","id":1122,"links":{},"metadata":{"_buckets":{"deposit":"b0e50687-c0e1-4286-9c87-2c666c451933"},"_deposit":{"created_by":2,"id":"1122","owners":[2],"pid":{"revision_id":0,"type":"depid","value":"1122"},"status":"published"},"_oai":{"id":"oai:nagasaki-u.repo.nii.ac.jp:00001122","sets":["8:9"]},"author_link":["5308","5317","5319","5323","5312","5320","5313","5314","5311","5315","5318","5310","5321","5322","5309","5316"],"item_2_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2018-06-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"11","bibliographicPageEnd":"1616","bibliographicPageStart":"1611","bibliographicVolumeNumber":"57","bibliographic_titles":[{"bibliographic_title":"Internal Medicine"}]}]},"item_2_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn disruption in bile acid synthesis characterized by severe systemic xanthomas, cataracts and neurological injuries occurring before adolescence without elevation of the serum cholesterol or triglyceride levels. CTX is caused by a deficiency of the mitochondrial enzyme sterol 27-hydroxylase, which is encoded by the CYP27A1 gene. We herein report a 50-year-old Japanese woman with late-onset CTX who had no relevant symptoms before the development of bilateral Achilles tendon xanthomas in middle age. A genetic analysis revealed a compound heterozygous mutation in the CYP27A1 gene with a previously known missense mutation (NM_000784.3:c.1421 G>A) and a novel frame shift mutation of NM_000784.3:c.1342_1343insCACC.","subitem_description_type":"Abstract"}]},"item_2_description_63":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"Internal Medicine, 57(11), pp.1611-1616; 2018","subitem_description_type":"Other"}]},"item_2_publisher_33":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"日本内科学会"}]},"item_2_relation_12":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"10.2169/internalmedicine.0120-17","subitem_relation_type_select":"DOI"}}]},"item_2_rights_13":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"c 2018 by The Japanese Society of Internal Medicine"}]},"item_2_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"09182918","subitem_source_identifier_type":"ISSN"}]},"item_2_source_id_8":{"attribute_name":"EISSN","attribute_value_mlt":[{"subitem_source_identifier":"13497235","subitem_source_identifier_type":"ISSN"}]},"item_2_version_type_16":{"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":"Sasamura, Akari"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Akazawa, Satoru"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Haraguchi, Ai"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Horie, Ichiro"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ando, Takao"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Abiru, Norio"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Takei, Hajime"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nittono, Hiroshi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Une, Mizuho"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kurosawa, Takao"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Murai, Tsuyoshi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Naruse, Hiromu"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nakayama, Tomohiro"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kotani, Kazuhiko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Remaley, Alan T."}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kawakami, Atsushi"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-12-18"}],"displaytype":"detail","filename":"IntMed57_1611.pdf","filesize":[{"value":"461.3 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"IntMed57_1611.pdf","url":"https://nagasaki-u.repo.nii.ac.jp/record/1122/files/IntMed57_1611.pdf"},"version_id":"59697f88-3930-44da-8b71-83ec77c6b985"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"cerebrotendinous xanthomatosis (CTX)","subitem_subject_scheme":"Other"},{"subitem_subject":"sterol 27-hydroxylase (CYP27A1)","subitem_subject_scheme":"Other"},{"subitem_subject":"cholestanol","subitem_subject_scheme":"Other"},{"subitem_subject":"norcholic acid","subitem_subject_scheme":"Other"},{"subitem_subject":"chenodeoxycholic acid (CDCA)","subitem_subject_scheme":"Other"},{"subitem_subject":"cholesterol efflux","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":"Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene"}]},"item_type_id":"2","owner":"2","path":["9"],"pubdate":{"attribute_name":"公開日","attribute_value":"2018-07-12"},"publish_date":"2018-07-12","publish_status":"0","recid":"1122","relation_version_is_last":true,"title":["Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene"],"weko_creator_id":"2","weko_shared_id":-1},"updated":"2023-05-16T04:07:33.832104+00:00"}