Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study

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 fla...

Source: Orphanet Journal of Rare Diseases - January 14, 2024 Category: Internal Medicine Authors: Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend C. Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W. Taylor, Krutik Patel, Mahmoud R. Fassad, Jana Vandrovco Tags: Research Source Type: research