{"created":"2023-06-19T13:30:20.260994+00:00","id":222,"links":{},"metadata":{"_buckets":{"deposit":"123e70b7-cb3c-4a5a-85db-17303f849e32"},"_deposit":{"created_by":14,"id":"222","owners":[14],"pid":{"revision_id":0,"type":"depid","value":"222"},"status":"published"},"_oai":{"id":"oai:jrckicn.repo.nii.ac.jp:00000222","sets":["2"]},"author_link":["1092","1093","1094","1095","387","1096"],"control_number":"222","item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"1989-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"88","bibliographicPageStart":"85","bibliographicVolumeNumber":"28","bibliographic_titles":[{"bibliographic_title":"Japanese journal of medicine","bibliographic_titleLang":"en"}]}]},"item_10001_description_19":{"attribute_name":"フォーマット","attribute_value_mlt":[{"subitem_description":"application/pdf","subitem_description_language":"en","subitem_description_type":"Other"}]},"item_10001_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"A case of partial sphingomylinase deficiency with supranuclear vertical ophthalmoplegia, perceptive hearing loss and renal failure is reported. Extensive studies revealed sea-blue histiocytosis in bone marrow, delayed peripheral nerve conduction velocity, selective IgG and IgM deficiency, mild hepatosplenomegaly and testicular hypotrophy and retention. Although renal failure, perceptive deafness, immunoglobulin deficiency and testicular malformation are rare conditions in sphingomyelinase deficiency, this case mimicked to lipidosis reported by Neville. The association of congenital malformation and uremia might accentuate the symptoms.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"日本内科学会","subitem_publisher_language":"ja"}]},"item_10001_relation_17":{"attribute_name":"関連サイト","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_language":"ja","subitem_relation_name_text":"社団法人日本内科学会"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"http://www.naika.or.jp/","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_language":"ja","subitem_relation_name_text":"Japanese journal of medicine(J-STAGE)"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://www.jstage.jst.go.jp/browse/internalmedicine1962/-char/ja/","subitem_relation_type_select":"URI"}}]},"item_10001_relation_18":{"attribute_name":"他の資源との関係","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_language":"ja","subitem_relation_name_text":"J-STAGE版"}],"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.2169/internalmedicine1962.28.85","subitem_relation_type_select":"DOI"}}]},"item_10001_rights_15":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"©1989 日本内科学会","subitem_rights_language":"ja"},{"subitem_rights":"本文データは学協会の許諾に基づきJ-STAGEから複製したものである","subitem_rights_language":"ja"}]},"item_10001_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AA00691133","subitem_source_identifier_type":"NCID"}]},"item_10001_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"1881-123X","subitem_source_identifier_type":"EISSN"}]},"item_10001_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":[{"creatorName":"KONAGAYA, Masaaki","creatorNameLang":"en"},{"creatorName":"小長谷, 正明","creatorNameLang":"ja"},{"creatorName":"コナガヤ, マサアキ","creatorNameLang":"ja-Kana"}],"familyNames":[{"familyName":"KONAGAYA","familyNameLang":"en"},{"familyName":"小長谷","familyNameLang":"ja"},{"familyName":"コナガヤ","familyNameLang":"ja-Kana"}],"givenNames":[{"givenName":"Masaaki","givenNameLang":"en"},{"givenName":"正明","givenNameLang":"ja"},{"givenName":"マサアキ","givenNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"1092","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"9000253111696","nameIdentifierScheme":"CiNii ID","nameIdentifierURI":"http://ci.nii.ac.jp/nrid/9000253111696"}]},{"creatorNames":[{"creatorName":"KONISHI, Toshihiko","creatorNameLang":"en"},{"creatorName":"小西, 敏彦","creatorNameLang":"ja"},{"creatorName":"コニシ, トシヒコ","creatorNameLang":"ja-Kana"}],"familyNames":[{"familyName":"KONISHI","familyNameLang":"en"},{"familyName":"小西","familyNameLang":"ja"},{"familyName":"コニシ","familyNameLang":"ja-Kana"}],"givenNames":[{"givenName":"Toshihiko","givenNameLang":"en"},{"givenName":"敏彦","givenNameLang":"ja"},{"givenName":"トシヒコ","givenNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"1093","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"9000253111697","nameIdentifierScheme":"CiNii ID","nameIdentifierURI":"http://ci.nii.ac.jp/nrid/9000253111697"}]},{"creatorNames":[{"creatorName":"KONAGAYA, Yoko","creatorNameLang":"en"},{"creatorName":"小長谷, 陽子","creatorNameLang":"ja"},{"creatorName":"コナガヤ, ヨウコ","creatorNameLang":"ja-Kana"}],"familyNames":[{"familyName":"KONAGAYA","familyNameLang":"en"},{"familyName":"小長谷","familyNameLang":"ja"},{"familyName":"コナガヤ","familyNameLang":"ja-Kana"}],"givenNames":[{"givenName":"Yoko","givenNameLang":"en"},{"givenName":"陽子","givenNameLang":"ja"},{"givenName":"ヨウコ","givenNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"1094","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"9000253111698","nameIdentifierScheme":"CiNii ID","nameIdentifierURI":"http://ci.nii.ac.jp/nrid/9000253111698"}]},{"creatorNames":[{"creatorName":"TAKAYANAGI, Tetsuya","creatorNameLang":"en"},{"creatorName":"高柳, 哲也","creatorNameLang":"ja"},{"creatorName":"タカヤナギ, テツヤ","creatorNameLang":"ja-Kana"}],"familyNames":[{"familyName":"TAKAYANAGI","familyNameLang":"en"},{"familyName":"高柳","familyNameLang":"ja"},{"familyName":"タカヤナギ","familyNameLang":"ja-Kana"}],"givenNames":[{"givenName":"Tetsuya","givenNameLang":"en"},{"givenName":"哲也","givenNameLang":"ja"},{"givenName":"テツヤ","givenNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"1095","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"9000253111699","nameIdentifierScheme":"CiNii ID","nameIdentifierURI":"http://ci.nii.ac.jp/nrid/9000253111699"}]},{"creatorNames":[{"creatorName":"KITA, Etsuko","creatorNameLang":"en"},{"creatorName":"喜多, 悦子","creatorNameLang":"ja"},{"creatorName":"キタ, エツコ","creatorNameLang":"ja-Kana"}],"familyNames":[{"familyName":"KITA","familyNameLang":"en"},{"familyName":"喜多","familyNameLang":"ja"},{"familyName":"キタ","familyNameLang":"ja-Kana"}],"givenNames":[{"givenName":"Etsuko","givenNameLang":"en"},{"givenName":"悦子","givenNameLang":"ja"},{"givenName":"エツコ","givenNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"387","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"40075130","nameIdentifierScheme":"e-Rad","nameIdentifierURI":"https://kaken.nii.ac.jp/ja/search/?qm=40075130"}]},{"creatorNames":[{"creatorName":"MUTO, Tatsuro","creatorNameLang":"en"},{"creatorName":"武藤, 多津郎","creatorNameLang":"ja"},{"creatorName":"ムトウ, タツロウ","creatorNameLang":"ja-Kana"}],"familyNames":[{"familyName":"MUTO","familyNameLang":"en"},{"familyName":"武藤","familyNameLang":"ja"},{"familyName":"ムトウ","familyNameLang":"ja-Kana"}],"givenNames":[{"givenName":"Tatsuro","givenNameLang":"en"},{"givenName":"多津郎","givenNameLang":"ja"},{"givenName":"タツロウ","givenNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"1096","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"9000253111701","nameIdentifierScheme":"CiNii ID","nameIdentifierURI":"http://ci.nii.ac.jp/nrid/9000253111701"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2013-02-28"}],"displaytype":"detail","filename":"Partial Sphingomyelinase Deficiency with Sea-Blue Histiocytosis and Neurovisceral Dysfunction.pdf","filesize":[{"value":"976.6 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"本文","url":"https://jrckicn.repo.nii.ac.jp/record/222/files/Partial Sphingomyelinase Deficiency with Sea-Blue Histiocytosis and Neurovisceral Dysfunction.pdf"},"version_id":"af7e721a-4191-4f73-bba5-b449eda4c24d"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Adolescent","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Deafness","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Dysgammaglobulinemia","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Female","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Gonadal Dysgenesis","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Histiocytes","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Humans","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"IgG Deficiency","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Immunoglobulin M","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Kidney Failure, Chronic","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Male","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Ophthalmoplegia","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Phosphoric Diester Hydrolases","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Sphingomyelin Phosphodiesterase","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Testis","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":"Partial sphingomyelinase deficiency with sea-blue histiocytosis and neurovisceral dysfunction","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Partial sphingomyelinase deficiency with sea-blue histiocytosis and neurovisceral dysfunction","subitem_title_language":"en"}]},"item_type_id":"10001","owner":"14","path":["2"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2013-02-28"},"publish_date":"2013-02-28","publish_status":"0","recid":"222","relation_version_is_last":true,"title":["Partial sphingomyelinase deficiency with sea-blue histiocytosis and neurovisceral dysfunction"],"weko_creator_id":"14","weko_shared_id":-1},"updated":"2024-02-20T06:48:39.074623+00:00"}