先天性ケトン体代謝異常症の臨床および分子病態に関する研究

• Material Type: 文書・図像類
• Title: 先天性ケトン体代謝異常症の臨床および分子病態に関する研究
• Author/Editor: 深尾, 敏幸
• Author Heading: 深尾, 敏幸
• Publication Date: 2003
• Publication Date (W3CDTF): 2003
• Text Language Code: jpn
• Target Audience: 一般
• Note (General): 研究報告書; 平成14年度-平成15年度年度科学研究費補助金 (基盤研究(C)(2) 課題番号14570735) 研究成果報告書
• Format (IMT): application/pdf
• Source: はしがき （abstract）; https://gifu-u.repo.nii.ac.jp/record/72195/files/14570735.pdf
• Data Provider (Database): 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）; https://irdb.nii.ac.jp
• Original Data Provider (Database): 岐阜大学 : 岐阜大学機関リポジトリ

Table of Contents

18-25p: Takusa Y. et al., Identification and Characterization of Temperature-Sensitive Mild Mutations in Three Japanese Patients with Nonsevere Forms of Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency. Molecular Genetics and Metabolism. 2002 75(3): 227-234

26p: Hasegawa Y. et al., Clinical and Molecular Findings in Japanese Patients with Very-Long Chain Acyl-CoA Dehydrogenase Deficiency. International Congress on Inborn Errors of Metabolism, Brisbane, Australia, 2-6 September, 2003.

27-32p: Purevjav E. et al., Molecular Study of Electron Transfer Flavoprotein α-Subunit Deficiency in Two Japanese Children with Different Phenotypes of Glutaric Acidemia Type II. European Journal of Clinical Investigation. 2002 32(9): 707-712

33-47p: (掲載誌等不明)Fukao T. et al., T435N Homozygous Patients Did Not Show Pathognomonic Permanent Ketosis in Succinyl-CoA:3-KetoacidCoA Transferase (SCOT) Deficiency.

48-56p: Fukao T. et al., Characterization of Six Mutations in Five Spanish Patients with Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Effects of Amino Acid Substitutions on Tertiary Structure. Molecular Genetics and Metabolism. 2002 75(3): 235-243