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Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders.
Yamamoto, Takuma; Mishima, Hiroyuki; Mizukami, Hajime; Fukahori, Yuki; Umehara, Takahiro; Murase, Takehiko; Kobayashi, Masamune; Mori, Shinjiro; Nagai, Tomonori; Fukunaga, Tatsushige; Yamaguchi, Seiji; Yoshiura, Koh-Ichiro; Ikematsu, Kazuya.
Afiliação
  • Yamamoto T; 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 H; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-8523, Japan.
  • Mizukami H; Department of Legal Medicine, Kanazawa Medical University, Ishikawa 920-0293, Japan.
  • Fukahori Y; Tokyo Medical Examiner's Office, Tokyo Metropolitan Government, Tokyo 112-0012, Japan.
  • Umehara T; 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 T; 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 M; 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.
  • Mori S; Department of Forensic Medicine, Tokyo Medical University, Tokyo 160-8402, Japan.
  • Nagai T; Tokyo Medical Examiner's Office, Tokyo Metropolitan Government, Tokyo 112-0012, Japan.
  • Fukunaga T; Tokyo Medical Examiner's Office, Tokyo Metropolitan Government, Tokyo 112-0012, Japan.
  • Yamaguchi S; Tokyo Medical Examiner's Office, Tokyo Metropolitan Government, Tokyo 112-0012, Japan.
  • Yoshiura KI; Department of Pediatrics, Shimane University Faculty of Medicine, Shimane 693-8501, Japan.
  • Ikematsu K; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-8523, Japan.
Mol Genet Metab Rep ; 5: 26-32, 2015 Dec.
Article em En | MEDLINE | ID: mdl-28649538
ABSTRACT
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Japão
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Japão