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  1. 0 資料タイプ別
  2. 03 紀要論文
  1. 250 大学院医歯学総合研究科(医)
  2. 20 紀要
  3. 02 新潟医学会雑誌
  4. 第101巻第7号

症候性女性Fabry病保因者の臨床的, 組織化学的, 生化学的研究 : 男性例との対比

http://hdl.handle.net/10191/36532
http://hdl.handle.net/10191/36532
93d67188-ef62-44ce-914d-b763df3f6dac
名前 / ファイル ライセンス アクション
101(7)_433-442.pdf 101(7)_433-442.pdf (3.6 MB)
Item type 紀要論文 / Departmental Bulletin Paper(1)
公開日 2016-01-08
タイトル
タイトル 症候性女性Fabry病保因者の臨床的, 組織化学的, 生化学的研究 : 男性例との対比
タイトル
言語 en
タイトル 症候性女性Fabry病保因者の臨床的, 組織化学的, 生化学的研究 : 男性例との対比
言語
言語 jpn
キーワード
主題Scheme Other
主題 Fabry's disease
キーワード
主題Scheme Other
主題 α-galactosidase
キーワード
主題Scheme Other
主題 glycosphingolipid
キーワード
主題Scheme Other
主題 heterozygote
キーワード
主題Scheme Other
主題 histochemistry
キーワード
主題Scheme Other
主題 ファブリー病
キーワード
主題Scheme Other
主題 α-ガラクトシダーゼ
キーワード
主題Scheme Other
主題 スフィンゴ糖脂質
キーワード
主題Scheme Other
主題 ヘテロ接合体
キーワード
主題Scheme Other
主題 組織化学
資源タイプ
資源 http://purl.org/coar/resource_type/c_6501
タイプ departmental bulletin paper
その他のタイトル
その他のタイトル Clinical, Histochemical and Biochemical Studies on Symptomatic Heterozygotes of Fabry's Disease : Comparison with Hemizygotes
著者 保住, 功

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WEKO 144116

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著者別名
識別子 144117
識別子Scheme WEKO
姓名 Hozumi, Isao
抄録
内容記述タイプ Abstract
内容記述 Fabry's disease is an X-linked disorder of glycosphingolipid catabolism. It is uncommon for female heterozygotes to show major clinical manifestations seen in hemizygotes. We have experienced a heterozygotic patient with cardiomyopathy and severe pain in the extremities. To elucidate the difference in clinical expressions between the symptomatic heterozygote and hemizygotes, we examined the spinal and sympathetic ganglia, heart, liver and kidney histochemically and biochemically and observed the accumulation of glycolipids in these organs of the heterozygote, which was similar to the hemizygote. Quantative analyses revealed marked accumulation of ceramide trihexoside (CTH) in the heart of the heterozygote, which was in contrast to predominant accumulation of CTH and ceramide dihexoside (CDH) in the kidney of the hemizygote. Digalactosyl ceramide was shown to be predominantly accumulated in CDH fraction obtained from sympathetic ganglia of the heterozygote. The α-galactosidase activity of the heterozygote was decreased to 16-40% of normal levels in various organs, especially in the heart. Two other heterozygotic patients were identified by low α-galactosidase activity and the cardiac involvement was demonstrated, although they did not have clinically evident cardiomyopathy. The difference in phenotypic expressions between sex can not be explained and further genetic study is necessary to explain it.
書誌情報 新潟医学会雑誌
en : 新潟医学会雑誌

巻 101, 号 7, p. 433-442, 発行日 1987-07
出版者
出版者 新潟医学会
ISSN
収録物識別子タイプ ISSN
収録物識別子 00290440
書誌レコードID
収録物識別子タイプ NCID
収録物識別子 AN00182415
著者版フラグ
値 publisher
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