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

Authors :: 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.
Wanders, R. J. A.
Source :: American Journal of Human Genetics. Jun2002, Vol. 70 Issue 6, p1589. 5p.
Publication Year :: 2002
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.

Subjects :: *FATTY acids
*PEROXISOMAL disorders
*CENTRAL nervous system diseases

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