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Background: Homozygosity and compound heterozygosity for the short chain acyl-CoA dehydrogenase (SCAD) gene sequence variants 625G->A and 511C->T are associated with ethylmalonic aciduria (EMA), a biochemical indicator of SCAD deficiency. The clinical and biochemical implications of these variants are not fully understood. The effect of these variants on the accumulation of butyrylcarnitine...
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