Article
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.
American journal of human genetics - 1 Jan 2006
Ferdinandusse Sacha, Ylianttila Mari S, Gloerich Jolein, Koski M Kristian, Oostheim Wendy, Waterham Hans R, Hiltunen J Kalervo, Wanders Ronald J A, Glumoff Tuomo
Abstract excerpt
D-bifunctional protein (DBP) deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation. The clinical presentation of DBP deficiency is usually very severe, but a few patients with a relatively mild presentation have been identified. In this article, we report the mutational spectrum of DBP deficiency on the basis of molecular analysis in 110 patients. We identified 61 different...
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