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Clinical and biochemical spectrum of D-bifunctional protein deficiency

✍ Scribed by Sacha Ferdinandusse; Simone Denis; Petra A. W. Mooyer; Conny Dekker; Marinus Duran; Roelineke J. Soorani-Lunsing; Eugen Boltshauser; Alfons Macaya; Jutta Gärtner; Charles B. L. M. Majoie; Peter G. Barth; Ronald J. A. Wanders; Bwee Tien Poll-The


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
598 KB
Volume
59
Category
Article
ISSN
0364-5134

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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