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

MOLECULAR GENETICS AND METABOLISM REPORTS 5 巻 26-32 頁 2015-12 発行
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タイトル
Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders
著者
Yamamoto Takuma
Mishima Hiroyuki
Mizukami Hajime
Fukahori Yuki
Umehara Takahiro
Murase Takehiko
Kobayashi Masamune
Mori Shinjiro
Nagai Tomonori
Fukunaga Tatsushige
Yoshiura Koh-Ichiro
Ikematsu Kazuya
収録物名
MOLECULAR GENETICS AND METABOLISM REPORTS
5
開始ページ 26
終了ページ 32
収録物識別子
ISSN 2214-4269
主題
Sudden unexpected death in infancy; Metabolic autopsy; Next generation sequencing; Fatty acid oxidation disorder; Carnitine palmitoyltransferase II deficiency
言語
英語
資源タイプ 学術雑誌論文
出版者
ELSEVIER SCIENCE BV
発行日 2015-12
アクセス権 メタデータのみ
関連情報
[DOI] 10.1016/j.ymgmr.2015.09.005
[PMID] 28649538
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).