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Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases.
Peroxisomes are subcellular organelles with an indispensable role in cellular metabolism. The importance of peroxisomes for humans is stressed by the existence of a group of genetic diseases inExpand
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Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.
Peroxisomes play an essential role in a number of different metabolic pathways, including the beta-oxidation of a distinct set of fatty acids and fatty acid derivatives. The importance of theExpand
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Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.
D-bifunctional protein is involved in the peroxisomal beta-oxidation of very long chain fatty acids, branched chain fatty acids and bile acid intermediates. In line with the central role ofExpand
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Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.
In the past few years, many patients have been described who have a defect of unknown origin in the peroxisomal beta-oxidation pathway. Complementation analysis has been done by various groups toExpand
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Lipid metabolism in peroxisomes: enzymology, functions and dysfunctions of the fatty acid alpha- and beta-oxidation systems in humans.
Peroxisomes are subcellular organelles present in virtually all eukaryotic cells catalysing a number of indispensable functions in cellular metabolism. The importance of peroxisomes in man isExpand
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Bifunctional protein deficiency: Complementation within the same group suggesting differential enzyme defects and clues to the underlying basis
E. G. VAN GRUNSVEN1, E. VAN BERKEL1, H. LEMONDE2, P. T. CLAYTON2 and R. J. A. WANDERS1,3* of Medical of 1 Clinical University Amsterdam, Academic Center, Departments Chemistry and ChildrenÏsExpand
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Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein.
In this report, we reinvestigate the only patient ever reported with a deficiency of peroxisomal 3-ketoacyl-CoA thiolase (THIO). At the time when they were described, the abnormalities in thisExpand
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Complementation analysis of fibroblasts from peroxisomal fatty acid oxidation deficient patients shows high frequency of bifunctional enzyme deficiency plus intragenic complementation: unequivocal
In the last few years many patients have been reported with a defect in peroxisomal fatty acid beta-oxidation of unknown origin. Using a combined approach based on direct activity measurements ofExpand
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Sensitive analysis of serum 3alpha, 7alpha, 12alpha,24-tetrahydroxy- 5beta-cholestan-26-oic acid diastereomers using gas chromatography-mass spectrometry and its application in peroxisomal
The final steps in bile acid biosynthesis take place in peroxisomes and involve oxidative cleavage of the side chain of C27-5beta-cholestanoic acids leading to the formation of the primary bile acidsExpand
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A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency Published, JLR Papers in Press, December 1, 2002. DOI 10.1194/jlr.D200039-JLR200
D-bifunctional protein (D-BP) plays an indispensable role in peroxisomal β-oxidation, and its inherited deficiency in humans is associated with severe clinical abnormalities. Three different subtypesExpand
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