{"created":"2023-06-19T11:23:23.107363+00:00","id":3908,"links":{},"metadata":{"_buckets":{"deposit":"9b84831a-2223-4dfb-b434-c023f8a9dcc0"},"_deposit":{"created_by":3,"id":"3908","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"3908"},"status":"published"},"_oai":{"id":"oai:asahikawa-med.repo.nii.ac.jp:00003908","sets":["7","7:23"]},"author_link":["11725","11726","11727","11728","11729","11730","11731","11732","11733","11734","11735","11736"],"item_5_alternative_title_3":{"attribute_name":"その他（別言語等）のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"心臓Fabry病の1家族についての臨床的並びに遺伝的研究","subitem_alternative_title_language":"ja"}]},"item_5_biblio_info_21":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2011-09-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"5","bibliographicPageEnd":"311","bibliographicPageStart":"308","bibliographicVolumeNumber":"52","bibliographic_titles":[{"bibliographic_title":"International Heart Journal"}]}]},"item_5_description_33":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Fabry病はα-galactosidase A遺伝子(GLA)の変異によるX染色体関連リソゾーム貯蔵障害に基づく疾患で、特発性肥大型心筋症に似た左室肥大を伴うことがある。本研究では三代にわたり本症患者が5名あった1家族の10名についてGLA変異を検査した。発端者は後壁基部の限局性菲薄化を伴う左室肥大があり、MR画像ではほぼ全周性にガドリニウム遅延増強(LGE)があった。LGEはα-galactosidase活性低下とともに著明化した。本研究でエクソン4に新しいミスセンス変異を発見した。","subitem_description_language":"ja","subitem_description_type":"Abstract"}]},"item_5_description_36":{"attribute_name":"注記","attribute_value_mlt":[{"subitem_description":"雑誌掲載版 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