{"created":"2023-05-15T09:17:23.205444+00:00","id":147,"links":{},"metadata":{"_buckets":{"deposit":"26dd927e-8fb8-4626-b7ab-c6ac0308f10c"},"_deposit":{"created_by":15,"id":"147","owners":[15],"pid":{"revision_id":0,"type":"depid","value":"147"},"status":"published"},"_oai":{"id":"oai:iuhw.repo.nii.ac.jp:00000147","sets":["1:13"]},"author_link":["914","915"],"item_10002_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2000-12-22","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"23","bibliographicPageStart":"15","bibliographicVolumeNumber":"5","bibliographic_titles":[{"bibliographic_title":"国際医療福祉大学紀要"},{"bibliographic_title":"Bulletin of International University of Health and Welfare","bibliographic_titleLang":"en"}]}]},"item_10002_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"分子遺伝学という新しい分析手法を取り入れた遺伝子医学は、古典的な小児神経学の考え方を変え、臨床の場における発達障害や神経疾患の診療内容・研究方向に大きな影響を与えている。その方法論はこれまでと全く異なった診断技術を生み出し、多くの未知の病気の病態や原因を解明してきた。ただし、分子レベルでの研究だけでは脳という複雑な情報システムを理解し、患者個体レベルでの病気の全体像をとらえることはできない。分子と個体の間に存在する、いわばブラックボックスを明らかにすることが、神経遺伝病をはじめとする多くの小児神経疾患の治療・予防につながるはずである。そのためにはどうしてもモデル動物による病態解明や治療のこころみが必要である。小児神経学における研究・診療は今後急速に変化し、患者診断や予防・治療に新しい見方や考え方を生み出すであろう。","subitem_description_type":"Abstract"}]},"item_10002_description_6":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"Recent Progress of molecular genetic techniques has changed drastically clinical practice and scientific research in child neurology. This new methodology has developed a completely new concept in the diagnosis of developmental disabilities and various neurogenetic diseases in children. However, molecular analysis alone cannot disclose an extremely complex network system of the human central nervous system under physiological or pathological conditions. There is a kind of huge black box between the levels of the molecule and patient. Detailed analysis of this missing link is expected to result in development of novel diagnostic and preventive measures toward understanding of phenotypic expressions of these diseases. We are currently trying a new approach in this regard, using model animals generated by gene manipulation in an experimental laboratory : knockout, transgenic, and Knockout-transgenic mice as a murine counterpart of human β-galactosidase deficiency disorders. Scientific research in this direction will produce a new concept for the pathogenesis and treatment of genetic diseases affecting the child's brain.","subitem_description_type":"Other"}]},"item_10002_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{}],"names":[{"name":"SUZUKI, Yoshiyuki"}]}]},"item_10002_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"国際医療福祉大学"}]},"item_10002_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN1059280X","subitem_source_identifier_type":"NCID"}]},"item_10002_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"13424661","subitem_source_identifier_type":"ISSN"}]},"item_10002_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":[{},{}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2019-06-28"}],"displaytype":"simple","filename":"5(15-23p).pdf","filesize":[{"value":"1.6 MB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"本文(PDF)","url":"https://iuhw.repo.nii.ac.jp/record/147/files/5(15-23p).pdf"},"version_id":"a31d24af-811b-4bf4-aa65-98fe7cb9830c"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"小児神経学","subitem_subject_scheme":"Other"},{"subitem_subject":"分子遺伝学","subitem_subject_scheme":"Other"},{"subitem_subject":"遺伝子診断","subitem_subject_scheme":"Other"},{"subitem_subject":"神経遺伝病","subitem_subject_scheme":"Other"},{"subitem_subject":"疾患モデル動物","subitem_subject_scheme":"Other"},{"subitem_subject":"child neurology","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"molecular genetics","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"gene diagnosis","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"neurogenetic diseases","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"model animal","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":"departmental bulletin paper","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"分子レベルで脳の病気を考える─こどもの脳を守る小児神経学─","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"分子レベルで脳の病気を考える─こどもの脳を守る小児神経学─"},{"subitem_title":"Molecular approaches to the genetic diseases affecting the developing brain","subitem_title_language":"en"}]},"item_type_id":"10002","owner":"15","path":["13"],"pubdate":{"attribute_name":"公開日","attribute_value":"2012-06-07"},"publish_date":"2012-06-07","publish_status":"0","recid":"147","relation_version_is_last":true,"title":["分子レベルで脳の病気を考える─こどもの脳を守る小児神経学─"],"weko_creator_id":"15","weko_shared_id":-1},"updated":"2023-05-15T09:29:00.564460+00:00"}