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Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders
http://hdl.handle.net/10069/36028
http://hdl.handle.net/10069/36028e24b6b71-2ec1-4a0c-bf35-b84514d6a177
名前 / ファイル | ライセンス | アクション |
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MGMR5_26.pdf (2.9 MB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2015-12-09 | |||||
タイトル | ||||||
タイトル | Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Carnitine palmitoyltransferase II deficiency | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Fatty acid oxidation disorder | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Metabolic autopsy | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Next generation sequencing | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Sudden unexpected death in infancy | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者 |
Yamamoto, Takuma
× Yamamoto, Takuma× Mishima, Hiroyuki× Mizukami, Hajime× Fukahori, Yuki× Umehara, Takahiro× Murase, Takehiko× Kobayashi, Masamune× Mori, Shinjiro× Nagai, Tomonori× Fukunaga, Tatsushige× Yamaguchi, Seiji× Yoshiura, Koh-ichiro× Ikematsu, Kazuya |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | The recent introduction of metabolic autopsy in the field of forensic science has made it possible to detect hidden inherited metabolic diseases. Since the next generation sequencing (NGS) has recently become available for use in postmortem examinations, we used NGS to perform metabolic autopsy in 15 sudden unexpected death in infancy cases. Diagnostic results revealed a case of carnitine palmitoyltransferase II deficiency and some cases of fatty acid oxidation-related gene variants. Metabolic autopsy performed with NGS is a useful method, especially when postmortem biochemical testing is not available. | |||||
書誌情報 |
Molecular Genetics and Metabolism Reports 巻 5, p. 26-32, 発行日 2015-12 |
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出版者 | ||||||
出版者 | Elsevier BV | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 22144269 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1016/j.ymgmr.2015.09.005 | |||||
権利 | ||||||
権利情報 | c 2015 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license(http://creativecommons.org/licenses/by-nc-nd/4.0/) | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Molecular Genetics and Metabolism Reports, 5, pp.26-32; 2015 |