Items for "inherited metabolic disease"

Neither maternal nor fetal mutation (E474Q) in the ?-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome

Objective: An association between maternal HELLP syndrome and fetal long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency has been proposed...

Keywords: Fatty acid oxidation, HELLP syndrome, inherited metabolic disease, 3-hydroxyacyl-CoA dehydrogenase (LCHAD)