日本臨牀 別冊 先天代謝異常症候群(第2版)下

出版社: 日本臨牀社
発行日: 2012-12-20
分野: 臨床医学:一般  >  雑誌
ISSN: 00471852
雑誌名:
特集: 先天代謝異常症候群(第2版)下
電子書籍版: 2012-12-20 (第2版第1刷)
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目次

  • 日本臨牀 別冊 先天代謝異常症候群(第2版)下

    ―目次―

    特集 先天代謝異常症候群(第2版)下

    序 文―患者さんたちが普通の人生を送る時代をめざして―

    VI. 脂質代謝異常    
     1. 脂質代謝異常:概論  
     2. 高カイロミクロン血症  
     3. 高コレステロール血症    
     4. 家族性?型高脂血症  
     5. 家族性?型高脂血症
     ほか

    VII. ポルフィリン−ヘム代謝異常    
     1. ポルフィリン−ヘム代謝異常:概論
     2. 急性間欠性ポルフィリン症(AIP)
     3. ALAD欠損性ポルフィリン症(ADP)
     4. 異型(多様性)ポルフィリン症(VP)
     5. 遺伝性コプロポルフィリン症(HCP)
     ほか

    VIII. 金属代謝異常    
     1. 金属代謝異常:概論 
     2. 銅転送異常症    
     3. 遺伝性ヘモクロマトーシス 
     4. 先天性無トランスフェリン血症 
     5. パントテン酸キナーゼ関連神経変性症
        (鉄沈着性脳神経変性症1)
     6. モリブデン補因子欠損症,亜硫酸オキシダーゼ単独欠損症
     7. 腸性肢端皮膚炎

    IX. ビタミン代謝異常    
     1. ビタミン代謝異常症:概論 
     2. 遺伝性葉酸転送異常,葉酸代謝異常    
     3. 遺伝性コバラミン転送異常,コバラミン代謝異常    
     4. ビオチン代謝異常症(ビオチン依存症)    
     5. ビタミンB1依存症  
     6. ビタミンB6依存性痙攣 
     7. ビタミンD依存症 
     8. ビタミンE欠損症 

    X. ビリルビン・胆汁酸代謝異常    
     1. ビリルビン・胆汁酸代謝異常:概論  
     2. 遺伝性黄疸,ビリルビン代謝異常    
     3. 絶食後高ビリルビン血症 
     4. 先天性胆汁酸生合成異常症,コレステロール以外の
        ステロールの蓄積    

    XI. ペルオキシソーム病    
     1. ペルオキシソーム病:概論 
     2. ペルオキシソーム形成異常症    
     3. 単独酵素欠損症    
     4. 新たに分類されたペルオキシソーム病

    XII. ライソゾーム病    
     1. ライソゾーム病:概論  
     2. ゴーシェ病  
     3. ファブリー病  
     4. ニーマン・ピック病A,B型  
     5. ファーバー病
        (セラミダーゼ欠損症、ファーバー脂肪肉芽腫症)
     ほか

    XIII. ミトコンドリア病    
     1. ミトコンドリア病:概論  
     2. ミトコンドリア呼吸鎖酵素複合体?欠損症  
     3. ミトコンドリア呼吸鎖酵素複合体II欠損症 
     4. ミトコンドリア呼吸鎖酵素複合体III欠損症 
     5. ミトコンドリア呼吸鎖酵素複合体IV欠損症 
     ほか

    XIV. 結合組織異常    
     1. 結合組織異常:概論
     2. 骨形成不全症
     3. 軟骨無形成症
     4. 低ホスファターゼ症
     5. アルポート症候群
     ほか

    XV. 膜輸送系の異常    
     1. 膜輸送系の異常:概論  
     2. Na+-D-グルコース共輸送システムの先天的欠損症    
     3. シスチン尿症  
     4. リジン尿性タンパク不耐症 
     5. ハートナップ病  
     ほか

    XVI. その他    
     1. アルストレーム(Alstrom)症候群
     2. 脂肪萎縮症
     3. ノリエ病
     4. α1-アンチトリプシン欠損症
     5. 原発性低マグネシウム血症
     ほか

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本参考文献は電子書籍掲載内容を元にしております。

VI 脂質代謝異常

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P.85 掲載の参考文献
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P.125 掲載の参考文献
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P.161 掲載の参考文献
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VII ポルフィリン - ヘム代謝異常

P.174 掲載の参考文献
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VIII 金属代謝異常

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IX ビタミン代謝異常

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X ビリルビン・胆汁酸代謝異常

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XI ペルオキシソーム病

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・ X-linked Adrenoleukodystrophy Database : http://www.x-ald.nl
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XII ライソゾーム病

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XIII ミトコンドリア病

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XIV 結合組織異常

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XV 膜輸送系の異常

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