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ACADSBAcyl-CoA Dehydrogenase, Short/Branched Chain
References in periodicals archive ?
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
In each case, the diagnosis of SBCADD was confirmed by demonstration of homozygosity or compound heterozygosity for ACADSB gene mutations by direct sequence analysis of the entire coding region from the patients and available family members (genotypes summarized in Table 1).