Browsing Research Articles (Paediatrics and Child Health) by Subject "Electron transfer flavoprotein-ubiquinone oxidoreductase gene (ETFDH)"

Browsing Research Articles (Paediatrics and Child Health) by Subject "Electron transfer flavoprotein-ubiquinone oxidoreductase gene (ETFDH)"

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  • Clinical, biochemical, and genetic spectrum of MADD in a South African cohort : an ICGNMD study 
    Bisschoff, Michelle; Smuts, Izelle; Dercksen, Marli; Schoonen, Maryke; Vorster, Barend C.; Van der Watt, George; Spencer, Careni; Naidu, Kireshnee; Henning, Franclo; Meldau, Surita; McFarland, Robert; Taylor, Robert W.; Patel, Krutik; Fassad, Mahmoud R.; Vandrovcova, Jana; Wanders, Ronald J.A.; Van der Westhuizen, Francois H. (BMC, 2024-01)
    BACKGROUND : Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder resulting from pathogenic variants in three distinct genes, with most of the variants occurring in the electron transfer ...