Diagnostic potential of stored dried blood spots for inborn errors of metabolism: a metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency.
Noriyuki KakuKenji IharaYuichiro HirataKenji YamadaSooyoung LeeHikaru KanemasaYoshitomo MotomuraHaruhisa BabaTamami TanakaYasunari SakaiYoshihiko MaeharaShouichi OhgaPublished in: Journal of clinical pathology (2018)
DBSs stored after newborn screening tests are a promising tool for metabolic autopsy. The appropriate compensation of acylcarnitine data and subsequent genetic and biochemical analyses are essential for the postmortem diagnosis of inborn errors of metabolism.