Browsing Natural and Agricultural Sciences by Author "Wanders, R.J.A"
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Biochemical and molecular genetic characterisation of MADD in a Southern African cohort
Bisschoff, Michelle (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 ...