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Elisabeth van Grunsven

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TOP 3
Jolein Gloerich; Simone Denis; Elisabeth G van Grunsven; Georges Dacremont; Ronald J A Wanders; Sacha Ferdinandusse
A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency.
Sacha Ferdinandusse; Elisabeth G van Grunsven; Wendy Oostheim; Simone Denis; Eveline M Hogenhout; Lodewijk IJlst; Carlo W T van Roermund; Hans R Waterham; S Goldfischer; R J A Wanders
Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein.
Ronald J A Wanders; Peter Vreken; Sacha Ferdinandusse; Gerbert Jansen; Hans R Waterham; Carlo W T van Roermund; Elisabeth G van Grunsven
Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases.

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All Publications

2003: Jolein Gloerich; Simone Denis; Elisabeth G van Grunsven; Georges Dacremont; Ronald J A Wanders; Sacha Ferdinandusse
A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency.
Journal of lipid research 2003;44(3):640-4.
2002: Sacha Ferdinandusse; Elisabeth G van Grunsven; Wendy Oostheim; Simone Denis; Eveline M Hogenhout; Lodewijk IJlst; Carlo W T van Roermund; Hans R Waterham; S Goldfischer; R J A Wanders
Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein.
American journal of human genetics 2002;70(6):1589-93.
2001: Ronald J A Wanders; Peter Vreken; Sacha Ferdinandusse; Gerbert Jansen; Hans R Waterham; Carlo W T van Roermund; Elisabeth G van Grunsven
Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases.
Biochemical Society transactions 2001;29(Pt 2):250-67.
2001: Gabriele Möller; Elisabeth G van Grunsven; Ronald J A Wanders; Jerzy Adamski
Molecular basis of D-bifunctional protein deficiency.
Molecular and cellular endocrinology 2001;171(1-2):61-70.
2000: Ronald J A Wanders; Elisabeth G van Grunsven; Gerbert Jansen
Lipid metabolism in peroxisomes: enzymology, functions and dysfunctions of the fatty acid alpha- and beta-oxidation systems in humans.
Biochemical Society transactions 2000;28(2):141-9.
1999: Elisabeth G van Grunsven; Petra A W Mooijer; P Aubourg; Ronald J A Wanders
Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.
Human molecular genetics 1999;8(8):1509-16.
1999: Gabriele Möller; Frauke Leenders; Elisabeth G van Grunsven; V Dolez; Britta Qualmann; Michael kessels; MM Markus; A Krazeisen; Bettina Husen; Ronald J A Wanders; Yvan de Launoit; Jerzy Adamski
Characterization of the HSD17B4 gene: D-specific multifunctional protein 2/17beta-hydroxysteroid dehydrogenase IV.
The Journal of steroid biochemistry and molecular biology 1999;69(1-6):441-6.
1999: Elisabeth G van Grunsven; E van Berkel; Simone Denis; Petra A W Mooijer; Ronald J A Wanders
D-hydroxyacyl-CoA dehydrogenase deficiency. Identification of a new peroxisomal disorder with implications for other disorders of beta-oxidation.
Advances in experimental medicine and biology 1999;466():365-9.
1999: Elisabeth G van Grunsven; E van Berkel; Petra A W Mooijer; Paul A Watkins; Hugo W Moser; Yasuyuki Suzuki; L L Jiang; T Hashimoto; Gerald Hoefler; Jerzy Adamski; Ronald J A Wanders
Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.
American journal of human genetics 1999;64(1):99-107.
1998: Peter Vreken; A van Rooij; Simone Denis; Elisabeth G van Grunsven; Dean Cuebas; Ronald J A Wanders
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.
Journal of lipid research 1998;39(12):2452-8.
1998: Elisabeth G van Grunsven; E van Berkel; Hugh Lemonde; P T Clayton; Ronald J A Wanders
Bifunctional protein deficiency: complementation within the same group suggesting differential enzyme defects and clues to the underlying basis.
Journal of inherited metabolic disease 1998;21(3):298-301.
1998: Elisabeth G van Grunsven; E van Berkel; Lodewijk IJlst; Peter Vreken; J B de Klerk; Jerzy Adamski; Hugh Lemonde; P T Clayton; Dean Cuebas; Ronald J A Wanders
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(5):2128-33.
1997: Elisabeth G van Grunsven; Ronald J A Wanders
Genetic heterogeneity in patients with a disorder of peroxisomal beta-oxidation: a complementation study based on pristanic acid beta-oxidation suggesting different enzyme defects.
Journal of inherited metabolic disease 1997;20(3):437-40.
1997: Elisabeth G van Grunsven; Carlo W T van Roermund; Simone Denis; Ronald J A Wanders
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.
Biochemical and biophysical research communications 1997;235(1):176-9.