Browsing by Subject "Multiple acyl-CoA dehydrogenase deficiency"
Now showing items 1-2 of 2
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Biochemical and molecular genetic characterisation of MADD in a Southern African cohort
(North-West University (South Africa), 2023)Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a heterogeneous group of inborn errors of metabolism caused by pathogenic autosomal recessive variants in ETFA, ETFB, and ETFDH. The latter is mainly affected and ... -
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 ...
