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1. Reinvestigation of Peroxisomal 3-Ketoacyl-CoA Thiolase Deficiency: Identification of the True Defect at the Level of D-Bifunctional Protein.

Author

Ferdinandusse, S., van Grunsven, E. G., Oostheim, W., Denis, S., Hogenhout, E. M., Ijlst, L., van Roermund, C. W. T., Waterham, H. R., Goldfischer, S., and Wanders, R. J. A.

Subjects
*FATTY acids, *PEROXISOMAL disorders, *CENTRAL nervous system diseases
Abstract

Presents a study which reinvestigated peroxisomal 3-ketoacyl-CoA thiolase deficiency. Identification of the true defect at the level of D-bifunctional protein; Methodology; Results.

Published
2002
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