Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders

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言語	英語
著者	Yamamoto Takuma Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki, Nagasaki 852-8523, Japan Mishima Hiroyuki Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-8523, Japan Mizukami Hajime Department of Legal Medicine, Kanazawa Medical University, Ishikawa 920-0293, Japan / Tokyo Medical Examiner's Office, Tokyo Metropolitan Government, Tokyo 112-0012, Japan Fukahori Yuki Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki, Nagasaki 852-8523, Japan Umehara Takahiro Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki, Nagasaki 852-8523, Japan Murase Takehiko Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki, Nagasaki 852-8523, Japan Kobayashi Masamune Department of Forensic Medicine, Tokyo Medical University, Tokyo 160-8402, Japan Mori Shinjiro Tokyo Medical Examiner's Office, Tokyo Metropolitan Government, Tokyo 112-0012, Japan Nagai Tomonori Tokyo Medical Examiner's Office, Tokyo Metropolitan Government, Tokyo 112-0012, Japan Fukunaga Tatsushige Tokyo Medical Examiner's Office, Tokyo Metropolitan Government, Tokyo 112-0012, Japan 山口清次 Yoshiura Koh-Ichiro Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-8523, Japan Ikematsu Kazuya Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki, Nagasaki 852-8523, Japan
主題	Sudden unexpected death in infancy; Metabolic autopsy; Next generation sequencing; Fatty acid oxidation disorder; Carnitine palmitoyltransferase II deficiency
掲載誌名	MOLECULAR GENETICS AND METABOLISM REPORTS
巻	5
開始ページ	26
終了ページ	32
ISSN	2214-4269
発行日	2015-12
DOI	10.1016/j.ymgmr.2015.09.005
PubMed ID	28649538
出版者	ELSEVIER SCIENCE BV
資料タイプ	学術雑誌論文
部局	医学部
備考	We would like to thank Norimasa Kageyama, Fumi Kuriiwa, Yuko Moriyama and Yutaka Araki for their technical advice. This study was supported in part by a grant from the Ministry of Health, Labour and Welfare of Japan, and grants from the Ministry of Education, Culture, Sports, Science and Technology of Japan (25860490).