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Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.
van Grunsven EG, van Berkel E, Ijlst L, Vreken P, de Klerk JB, Adamski J, Lemonde H, Clayton PT, Cuebas DA, Wanders RJ. van Grunsven EG, et al. Among authors: van berkel e. Proc Natl Acad Sci U S A. 1998 Mar 3;95(5):2128-33. doi: 10.1073/pnas.95.5.2128. Proc Natl Acad Sci U S A. 1998. PMID: 9482850 Free PMC article.
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.
van Grunsven EG, van Roermund CW, Denis S, Wanders RJ. van Grunsven EG, et al. Among authors: van roermund cw. Biochem Biophys Res Commun. 1997 Jun 9;235(1):176-9. doi: 10.1006/bbrc.1997.6755. Biochem Biophys Res Commun. 1997. PMID: 9196058
Molecular basis of D-bifunctional protein deficiency.
Möller G, van Grunsven EG, Wanders RJ, Adamski J. Möller G, et al. Among authors: van grunsven eg. Mol Cell Endocrinol. 2001 Jan 22;171(1-2):61-70. doi: 10.1016/s0303-7207(00)00388-9. Mol Cell Endocrinol. 2001. PMID: 11165012 Review.
Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein.
Ferdinandusse S, van Grunsven EG, Oostheim W, Denis S, Hogenhout EM, IJlst L, van Roermund CW, Waterham HR, Goldfischer S, Wanders RJ. Ferdinandusse S, et al. Among authors: van grunsven eg. Am J Hum Genet. 2002 Jun;70(6):1589-93. doi: 10.1086/340970. Epub 2002 Apr 23. Am J Hum Genet. 2002. PMID: 11992265 Free PMC article.
14 results