Clinical, biochemical, and mutational sp
β
Sacha Ferdinandusse; Simone Denis; Eveline M. Hogenhout; Janet Koster; Carlo W.T
π
Article
π
2007
π
John Wiley and Sons
π
English
β 888 KB
Peroxisomal acyl-coenzyme A (acyl-CoA) oxidase deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation due to a deficiency of straight-chain acyl-CoA oxidase (SCOX). The biochemical hallmark of this disorder is the accumulation of very long-chain fatty acids. Although s