Retrospective review of Japanese sudden unexpected death in infancy: the importance of metabolic autopsy and expanded newborn screening. [electronic resource]
Producer: 20110705Description: 399-406 p. digitalISSN:- 1096-7206
- Acyl-CoA Dehydrogenase, Long-Chain -- genetics
- Carnitine -- analogs & derivatives
- Carnitine Acyltransferases -- genetics
- Carnitine O-Palmitoyltransferase -- deficiency
- Case-Control Studies
- Female
- Haplotypes
- Humans
- Infant
- Infant, Newborn
- Japan
- Liver -- pathology
- Male
- Mitochondrial Trifunctional Protein
- Multienzyme Complexes -- genetics
- Mutation, Missense
- Neonatal Screening -- methods
- Retrospective Studies
- Sudden Infant Death -- epidemiology
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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