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

MOLECULAR GENETICS AND METABOLISM REPORTS Volume 5 Page 26-32 published_at 2015-12
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Title
Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders
Creator
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
Source Title
MOLECULAR GENETICS AND METABOLISM REPORTS
Volume 5
Start Page 26
End Page 32
Journal Identifire
ISSN 2214-4269
Subjects
Sudden unexpected death in infancy; Metabolic autopsy; Next generation sequencing; Fatty acid oxidation disorder; Carnitine palmitoyltransferase II deficiency
Language
eng
Resource Type journal article
Publisher
ELSEVIER SCIENCE BV
Date of Issued 2015-12
Access Rights metadata only access
Relation
[DOI] 10.1016/j.ymgmr.2015.09.005
[PMID] 28649538
Remark 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).