17 results on '"van Grunsven, E. G."'
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2. Bifunctional protein deficiency: Complementation within the same group suggesting differential enzyme defects and clues to the underlying basis
3. Genetic heterogeneity in patients with a disorder of peroxisomal β-oxidation: A complementation study based on pristanic acid β-oxidation suggesting different enzyme defects
4. D-Hydroxyacyl-CoA Dehydrogenase Deficiency
5. Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases
6. D-hydroxyacyl-CoA dehydrogenase deficiency. Identification of a new peroxisomal disorder with implications for other disorders of beta-oxidation
7. 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 D-bifunctional protein deficiency
8. Peroxisomal fatty acid α- and β-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases
9. Lipid metabolism in peroxisomes: enzymology, functions and dysfunctions of the fatty acid α- and β-oxidation systems in humans
10. Enoyl-CoA Hydratase Deficiency: Identification of a New Type of D-Bifunctional Protein Deficiency
11. Reinvestigation of Peroxisomal 3-Ketoacyl-CoA Thiolase Deficiency: Identification of the True Defect at the Level of D-Bifunctional Protein.
12. Molecular basis of D-bifunctional protein deficiency.
13. Lipid metabolism in peroxisomes: enzymology, functions and dysfunctions of the fatty acid alpha- and beta-oxidation systems in humans.
14. Characterization of the HSD17B4 gene: D-specific multifunctional protein 2/17beta-hydroxysteroid dehydrogenase IV.
15. Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.
16. Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.
17. Complementation analysis of fibroblasts from peroxisomal fatty acid oxidation deficient patients shows high frequency of bifunctional enzyme deficiency plus intragenic complementation: unequivocal evidence for differential defects in the same enzyme protein.
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