{"created":"2021-03-01T06:07:35.100064+00:00","id":3751,"links":{},"metadata":{"_buckets":{"deposit":"82cf238d-9210-4e8c-b2f1-e75b85a22e54"},"_deposit":{"id":"3751","owners":[],"pid":{"revision_id":0,"type":"depid","value":"3751"},"status":"published"},"_oai":{"id":"oai:soar-ir.repo.nii.ac.jp:00003751","sets":["461:462"]},"author_link":["6799","6800","6801","6802","6803","6804","6805","6806"],"control_number":"3751","item_1628147817048":{"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_6_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2013","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"124","bibliographicPageStart":"119","bibliographicVolumeNumber":"52","bibliographic_titles":[{"bibliographic_title":"INTERNAL MEDICINE"}]}]},"item_6_description_20":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"The case of a Japanese sialidosis type I patient with a novel NEU1 gene mutation is described. The patient developed an unsteady gait at age 14 and was referred to our hospital at age 16. On admission, subnormal intelligence, dysarthria, myoclonus, intentional tremors, limb and gait ataxia, hyperreflexia and macular cherry-red spots were observed. An enzymological analysis revealed a primary deficiency of neuraminidase. An NEU1 gene analysis identified two heterozygous missense mutations: p.P80L and p.D135N. The p.D135N mutation is a novel mutation that is considered to be associated with the mild clinical phenotype of sialidosis. Serial brain MRI showed diffuse brain atrophy progressing rapidly over the 41-month observation period.","subitem_description_type":"Abstract"}]},"item_6_description_30":{"attribute_name":"資源タイプ（コンテンツの種類）","attribute_value_mlt":[{"subitem_description":"Article","subitem_description_type":"Other"}]},"item_6_description_5":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"INTERNAL MEDICINE. 52(1):119-124(2013)","subitem_description_type":"Other"}]},"item_6_link_3":{"attribute_name":"信州大学研究者総覧へのリンク","attribute_value_mlt":[{"subitem_link_text":"Sekijima, Yoshiki","subitem_link_url":"http://soar-rd.shinshu-u.ac.jp/profile/ja.WhLNuakh.html"},{"subitem_link_text":"Nakamura, Katsuya","subitem_link_url":"http://soar-rd.shinshu-u.ac.jp/profile/ja.jFSVbVym.html"},{"subitem_link_text":"Kishida, Dai","subitem_link_url":"http://soar-rd.shinshu-u.ac.jp/profile/ja.uUSVPpym.html"}]},"item_6_link_67":{"attribute_name":"WoS","attribute_value_mlt":[{"subitem_link_url":"http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000315954500021"}]},"item_6_publisher_4":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"JAPAN SOC INTERNAL MEDICINE","subitem_publisher_language":"en"}]},"item_6_relation_47":{"attribute_name":"PubMed","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"23291686"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://pubmed.ncbi.nlm.nih.gov/23291686","subitem_relation_type_select":"PMID"}}]},"item_6_relation_48":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"10.2169/internalmedicine.52.8901"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.2169/internalmedicine.52.8901","subitem_relation_type_select":"DOI"}}]},"item_6_rights_62":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"Copyright© 2013 The Japanese Society of Internal Medicine"}]},"item_6_source_id_40":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AA10827774","subitem_source_identifier_type":"NCID"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Sekijima,  Yoshiki","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nakamura,  Katsuya","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kishida,  Dai","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Narita,  Aya","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Adachi,  Kaori","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ohno,  Kosaku","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nanba,  Eiji","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ikeda,  Shu-ichi","creatorNameLang":"en"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2015-09-24"}],"displaytype":"detail","filename":"Clinical_Serial_MRI_Findings_Sialidosis.pdf","filesize":[{"value":"2.0 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"Clinical_Serial_MRI_Findings_Sialidosis.pdf","url":"https://soar-ir.repo.nii.ac.jp/record/3751/files/Clinical_Serial_MRI_Findings_Sialidosis.pdf"},"version_id":"4ea7a596-c073-4b39-ba6e-d88284f5ff6c"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"sialidosis","subitem_subject_scheme":"Other"},{"subitem_subject":"neuraminidase","subitem_subject_scheme":"Other"},{"subitem_subject":"ataxia","subitem_subject_scheme":"Other"},{"subitem_subject":"cherry-red spot","subitem_subject_scheme":"Other"},{"subitem_subject":"myoclonus","subitem_subject_scheme":"Other"},{"subitem_subject":"magnetic resonance imaging","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":"Clinical and Serial MRI Findings of a Sialidosis Type I Patient with a Novel Missense Mutation in the NEU1 Gene","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Clinical and Serial MRI Findings of a Sialidosis Type I Patient with a Novel Missense Mutation in the NEU1 Gene","subitem_title_language":"en"}]},"item_type_id":"6","owner":"1","path":["462"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2014-06-09"},"publish_date":"2014-06-09","publish_status":"0","recid":"3751","relation_version_is_last":true,"title":["Clinical and Serial MRI Findings of a Sialidosis Type I Patient with a Novel Missense Mutation in the NEU1 Gene"],"weko_creator_id":"1","weko_shared_id":3},"updated":"2022-12-14T04:39:38.487271+00:00"}