ArticleMolecular genetics and metabolism reports2015
Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders.
Article in Molecular genetics and metabolism reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 19 citations in OpenAlex.
- Dental Implications of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: A Comprehensive Case Report and Literature Review.Clinical case reports · 2024Article
- Article
- Molecular autopsy for sudden death in Japan.Journal of toxicologic pathology · 2024Review
- Carnitine-acylcarnitine translocase deficiency: a case report with autopsy.Autopsy & case reports · 2024Article
- Review
- Accurate interpretation of genetic variants in sudden unexpected death in infancy by trio-targeted gene-sequencing panel analysis.Scientific reports · 2021Article
- Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening.Molecular genetics and metabolism reports · 2020Article
- Article
- Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.Human genetics · 2019Article
- Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology.Journal of perinatology : official journal of the California Perinatal Association · 2018Review
- Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death.Journal of human genetics · 2017Article
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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Registered trials
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