Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.
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DOI: 10.1007/s11011-020-00632-0
Abstract: Glutaric aciduria type 1 (GA-1) is a rare but treatable inherited disease caused by deficiency of glutaryl-CoA dehydrogenase activity due to GCDH gene mutations. In this study, we report 24 symptomatic GA-1 Brazilian patients, and… read more here.
Keywords: clinical biochemical; biochemical molecular; gcdh gene; molecular findings ... See more keywords