学術雑誌論文 Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders

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

5pp.26 - 32 , 2015-12 , Elsevier BV
ISSN:22144269
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.
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http://naosite.lb.nagasaki-u.ac.jp/dspace/bitstream/10069/36028/1/MGMR5_26.pdf

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