{"created":"2021-03-01T06:27:29.378067+00:00","id":22343,"links":{},"metadata":{"_buckets":{"deposit":"74536146-d93d-4ea7-9db4-be91c8a42971"},"_deposit":{"id":"22343","owners":[],"pid":{"revision_id":0,"type":"depid","value":"22343"},"status":"published"},"_oai":{"id":"oai:niigata-u.repo.nii.ac.jp:00022343","sets":["453:456","471:537:538:1199"]},"item_7_alternative_title_1":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"Molecular Genetic Analysis of Juvenile Sandhoff Disease(Disorders Characterized by Evidence of Abnormal Lipid Metabolism)"}]},"item_7_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"1990-04","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"4","bibliographicPageEnd":"266","bibliographicPageStart":"260","bibliographicVolumeNumber":"104","bibliographic_titles":[{"bibliographic_title":"新潟医学会雑誌"},{"bibliographic_title":"新潟医学会雑誌","bibliographic_titleLang":"en"}]}]},"item_7_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"A case of juvenile type Sandhoff disease presenting with mental retardation and local panatrophy was reported. In the patient, total hexosaminidase (Hex) activity of leukocytes was decreased to 17% of control, and Hex B activity was barely detectable. On Cellogel electrophoresis, majority of the residural Hex activity in the patient's leukocyte was Hex S (α, α), and Hex A (α, β) was present in a minor form. On Southern blot hybridization analysis using Hex β subunit cDNA as a probe, the patient's DNA showed identical pattern to those of normal controls. On Northern blot hybridization analysis, the amount of Hex β mRNA was markedly reduced, although the size was identical to that of control. These results suggest that the new phenotype of Sandhoff disease is caused by a small mutation in the Hex β chain gene, which leads to decreased amount of Hex β mRNA.","subitem_description_type":"Abstract"}]},"item_7_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"135815","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Wakamatsu, Nobuaki"}]}]},"item_7_publisher_7":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"新潟医学会"}]},"item_7_select_19":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_select_item":"publisher"}]},"item_7_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN00182415","subitem_source_identifier_type":"NCID"}]},"item_7_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"00290440","subitem_source_identifier_type":"ISSN"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"若松, 延昭"}],"nameIdentifiers":[{"nameIdentifier":"135814","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":"2019-08-16"}],"displaytype":"detail","filename":"104(4)_260-266.pdf","filesize":[{"value":"1.5 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"104(4)_260-266.pdf","url":"https://niigata-u.repo.nii.ac.jp/record/22343/files/104(4)_260-266.pdf"},"version_id":"9b087335-8777-4822-b9c7-c4c9e1c49028"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Juvenile Sandhoff disease","subitem_subject_scheme":"Other"},{"subitem_subject":"N-acetyl-β-hexosaminidase","subitem_subject_scheme":"Other"},{"subitem_subject":"local panatrophy","subitem_subject_scheme":"Other"},{"subitem_subject":"reduced mRNA","subitem_subject_scheme":"Other"},{"subitem_subject":"若年性サンドホフ病","subitem_subject_scheme":"Other"},{"subitem_subject":"ヘキソサミニダーゼ","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":"4) 若年性Sandhoff病の分子遺伝学的解析(シンポジウム 各科領域における脂質代謝異常, 第447回新潟医学会)","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"4) 若年性Sandhoff病の分子遺伝学的解析(シンポジウム 各科領域における脂質代謝異常, 第447回新潟医学会)"},{"subitem_title":"4) 若年性Sandhoff病の分子遺伝学的解析(シンポジウム 各科領域における脂質代謝異常, 第447回新潟医学会)","subitem_title_language":"en"}]},"item_type_id":"7","owner":"1","path":["456","1199"],"pubdate":{"attribute_name":"公開日","attribute_value":"2015-11-06"},"publish_date":"2015-11-06","publish_status":"0","recid":"22343","relation_version_is_last":true,"title":["4) 若年性Sandhoff病の分子遺伝学的解析(シンポジウム 各科領域における脂質代謝異常, 第447回新潟医学会)"],"weko_creator_id":"1","weko_shared_id":null},"updated":"2022-12-15T03:52:43.252173+00:00"}