Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency
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DOI: 10.1016/j.braindev.2020.10.011
Abstract: Peroxisomal acyl-CoA oxidase (ACOX1) deficiency is a rare autosomal recessive single enzyme deficiency characterized by hypotonia, seizures, failure to thrive, developmental delay, and neurological regression starting from approximately 3 years of age. Here, we report two… read more here.
Keywords: peroxisomal acyl; acyl coa; acox1 deficiency; two siblings ... See more keywords