{"created":"2023-08-02T03:56:05.467178+00:00","id":5072,"links":{},"metadata":{"_buckets":{"deposit":"30aa7541-c380-473e-9475-f40fb5317030"},"_deposit":{"created_by":10,"id":"5072","owners":[10],"pid":{"revision_id":0,"type":"depid","value":"5072"},"status":"published"},"_oai":{"id":"oai:repository.lib.tottori-u.ac.jp:00005072","sets":["1:9","2:12","23:34:1058:1061"]},"author_link":["18736","18737","18738","2804","18739","18740","18741","18742","18743","18744","18745","18746","18747"],"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2006-09","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"3","bibliographicPageEnd":"82","bibliographicPageStart":"77","bibliographicVolumeNumber":"49","bibliographic_titles":[{"bibliographic_title":"Yonago Acta medica"},{"bibliographic_title":"Yonago Acta medica","bibliographic_titleLang":"en"}]}]},"item_10001_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"We report three boys (4, 6 and 8 years old) in a Japanese family with X-linked (XL) recessive severe mental retardation (MR), rigidospastic diplegia, mild athetotic movement of the upper limbs, delayed myelination and poor weight gain. Neurological manifestations were non-progressive. No deterioration of development, convulsion, cerebellar signs, dysarthria, pseudobulbar signs, or minor anomalies including facial dysmorphism or macro-orchidism were found. Ocular fundus was normal. The patients' mothers and one grandmother were clinically normal. Blood chemistry was within normal limits. Serum anti-human T-cell leukemia virus-I antibody titer was negative. Levels of plasma amino acids and serum very long chain fatty acids, and lysozomal enzyme activities from leukocytes were normal. Brain magnetic resonance imaging scans showed delayed myelination. Fragile X (FRAXA), fragile XE (FRAXE), proteolipid protein and L1 cell adhesion molecule (L1CAM) genes were normal. These findings were not consistent with previously reported 13 XLMR syndromes with paralysis. We conclude that this condition is a distinct and previously undescribed XLMR syndrome.","subitem_description_type":"Other"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Tottori University Faculty of Medicine"}]},"item_10001_relation_16":{"attribute_name":"情報源","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"Yonago Acta medica. 2006, 49(3), 77-82"}]}]},"item_10001_rights_15":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"Yonago Acta medica　編集委員会"}]},"item_10001_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AA00892882","subitem_source_identifier_type":"NCID"}]},"item_10001_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"13468049","subitem_source_identifier_type":"ISSN"}]},"item_10001_text_32":{"attribute_name":"著者所属","attribute_value_mlt":[{"subitem_text_value":"Department of Early Childhood Education and Care, Kurashiki City College"},{"subitem_text_value":"Department of Pediatrics, Chizu Municipal Hospital"},{"subitem_text_value":"Kanagawa Children's Medical Center"},{"subitem_text_value":"Department of Child Neurology, Institute of Neurological Sciences, Tottori University Faculty of Medicine"},{"subitem_text_value":"Daiichi Welfare University"},{"subitem_text_value":"Institute for Clinical Research and Department of Neurosurgery, Osaka National Hospital, National Hospital Organization"},{"subitem_text_value":"Institute for Clinical Research and Department of Neurosurgery, Osaka National Hospital, National Hospital Organization"}]},"item_10001_version_type_20":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Ehara, Hiroaki"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ohtani, Kyoichi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yamamoto, Toshiyuki"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ohno, Kousaku"},{"creatorName":"Ohno, Kousaku","creatorNameLang":"en"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"Takeshita, Kenzo"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kanemura, Yonehiro"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yamasaki, Mami"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ehara, Hiroaki","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ohtani, Kyoichi","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yamamoto, Toshiyuki","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Takeshita, Kenzo","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kanemura, Yonehiro","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yamasaki, Mami","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":"2009-06-09"}],"displaytype":"detail","filename":"49_077-082.pdf","filesize":[{"value":"106.7 kB"}],"format":"application/pdf","licensefree":"Yonago Acta medica　編集委員会","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"49_077-082.pdf","url":"https://repository.lib.tottori-u.ac.jp/record/5072/files/49_077-082.pdf"},"version_id":"e05ca4b6-db5e-4192-8856-a7d529de5aef"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"L1 cell adhesion molecule","subitem_subject_scheme":"Other"},{"subitem_subject":"myelination delay","subitem_subject_scheme":"Other"},{"subitem_subject":"proteolipid protein","subitem_subject_scheme":"Other"},{"subitem_subject":"spastic diplegia","subitem_subject_scheme":"Other"},{"subitem_subject":"X-linked mental retardation syndrome","subitem_subject_scheme":"Other"},{"subitem_subject":"L1 cell adhesion molecule","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"myelination delay","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"proteolipid protein","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"spastic diplegia","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"X-linked mental retardation syndrome","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"}]},"item_title":"A New X-Linked Mental Retardation Syndrome with Diplegia and Delayed Myelination","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"A New X-Linked Mental Retardation Syndrome with Diplegia and Delayed Myelination","subitem_title_language":"en"}]},"item_type_id":"10001","owner":"10","path":["12","9","1061"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2018-06-22"},"publish_date":"2018-06-22","publish_status":"0","recid":"5072","relation_version_is_last":true,"title":["A New X-Linked Mental Retardation Syndrome with Diplegia and Delayed Myelination"],"weko_creator_id":"10","weko_shared_id":-1},"updated":"2023-10-03T23:52:36.450478+00:00"}