@article{oai:nagasaki-u.repo.nii.ac.jp:00004887, author = {Yamamoto, Takuma and Mishima, Hiroyuki and Mizukami, Hajime and Fukahori, Yuki and Umehara, Takahiro and Murase, Takehiko and Kobayashi, Masamune and Mori, Shinjiro and Nagai, Tomonori and Fukunaga, Tatsushige and Yamaguchi, Seiji and Yoshiura, Koh-ichiro and Ikematsu, Kazuya}, journal = {Molecular Genetics and Metabolism Reports}, month = {Dec}, note = {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., Molecular Genetics and Metabolism Reports, 5, pp.26-32; 2015}, pages = {26--32}, title = {Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders}, volume = {5}, year = {2015} }