Browsing Faculty of Natural and Agricultural Sciences by Subject "Glutaric aciduria type II"
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A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency
(Elsevier, 2018)Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD type I) is an autosomal recessive disorder of the electron transfer flavoprotein function characterized by a severe clinical and biochemical phenotype, including ...