Yamamoto, Takuma

Retrospective review of Japanese sudden unexpected death in infancy: the importance of metabolic autopsy and expanded newborn screening. [electronic resource] - Molecular genetics and metabolism Apr 2011 - 399-406 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1096-7206

10.1016/j.ymgme.2010.12.004 doi


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