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| ファイル | 記述 | サイズ | フォーマット | |
|---|---|---|---|---|
| internalmedicine.4604-20.pdf | 5.98 MB | Adobe PDF | 見る/開く |
| タイトル: | Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous <i>ACADVL</i> Mutations |
| 著者: | Fuseya, Yasuhiro   https://orcid.org/0000-0003-3281-6074 (unconfirmed)Sakurai, Takeyo Miyahara, Jun-ichi Sato, Kei Kaji, Seiji Saito, Yoshihiko Takahashi, Makio Nishino, Ichizo Fukuda, Tokiko Sugie, Hideo Yamashita, Hirofumi |
| 著者名の別形: | 伏屋, 康寛 櫻井, 健世 宮原, 淳一 佐藤, 啓 梶, 誠兒 斎藤, 良彦 髙橋, 牧郎 西野, 一三 福田, 冬季子 杉江, 秀夫 山下, 博史 |
| キーワード: | very long-chain acyl-CoA dehydrogenase deficiency ACADVL rhabdomyolysis |
| 発行日: | 2020 |
| 出版者: | Japanese Society of Internal Medicine |
| 誌名: | Internal Medicine |
| 巻: | 59 |
| 号: | 21 |
| 開始ページ: | 2729 |
| 終了ページ: | 2732 |
| 抄録: | Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL, which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delayed diagnosis or a misdiagnosis may sometimes occur. We herein describe a difficult-to-diagnose case of the muscle form of adult-onset VLCAD deficiency with compound heterozygous ACADVL mutations including c.790A>G (p.K264E) and c.1246G>A (p.A416T). |
| 著作権等: | © 2020 by The Japanese Society of Internal Medicine. The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/). |
| URI: | http://hdl.handle.net/2433/259213 |
| DOI(出版社版): | 10.2169/internalmedicine.4604-20 |
| PubMed ID: | 32669490 |
| 出現コレクション: | 学術雑誌掲載論文等 |
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