| Autor: |
Takuma Yamamoto, Hiroyuki Mishima, Hajime Mizukami, Yuki Fukahori, Takahiro Umehara, Takehiko Murase, Masamune Kobayashi, Shinjiro Mori, Tomonori Nagai, Tatsushige Fukunaga, Seiji Yamaguchi, Koh-ichiro Yoshiura, Kazuya Ikematsu |
| Jazyk: |
angličtina |
| Rok vydání: |
2015 |
| Předmět: |
|
| Zdroj: |
Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 26-32 (2015) |
| Druh dokumentu: |
article |
| ISSN: |
2214-4269 |
| DOI: |
10.1016/j.ymgmr.2015.09.005 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
