Molecular basis of hepatic carnitine palmitoyltransferase I deficiency von IJlst, L, Mandel, H, Oostheim, W, Ruiter, J P, Gutman, A, Wanders, R J

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Functional Analysis of Mutant Human Carnitine Acylcarnitine Translocases in Yeast von IJlst, L., van Roermund, C.W.T., Iacobazzi, V., Oostheim, W., Ruiter, J.P.N., Williams, J.C., Palmieri, F., Wanders, R.J.A.

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

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Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities von de Vet, E C, Ijlst, L, Oostheim, W, Dekker, C, Moser, H W, van Den Bosch, H, Wanders, R J

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Mutational Spectrum of d-Bifunctional Protein Deficiency and Structure-Based Genotype-Phenotype Analysis von Ferdinandusse, Sacha, Ylianttila, Mari S., Gloerich, Jolein, Koski, M. Kristian, Oostheim, Wendy, Waterham, Hans R., Hiltunen, J. Kalervo, Wanders, Ronald J.A., Glumoff, Tuomo

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Novel mutations in the 7‐dehydrocholesterol reductase gene of 13 patients with Smith–Lemli–Opitz syndrome von JIRA, P. E., WANDERS, R. J. A., SMEITINK, J. A. M., JONG, J., WEVERS, R. A., OOSTHEIM, W., TUERLINGS, J. H. A. M., HENNEKAM, R. C. M., SENGERS, R. C. A., WATERHAM, H. R.

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Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith–Lemli–Opitz syndrome von JIRA, P. E., WANDERS, R. J. A., SMEITINK, J. A. M., DE JONG, J., WEVERS, R. A., OOSTHEIM, W., TUERLINGS, J. H. A. M., HENNEKAM, R. C. M., SENGERS, R. C. A., WATERHAM, H. R.

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Incidence and molecular mechanism of aberrant splicing owing to a G→C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome von WATERHAM, H R, OOSTHEIM, W, ROMEIJN, G J, WANDERS, R J A, HENNEKAM, R C M

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Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency von de Vet, E C, Ijlst, L, Oostheim, W, Wanders, R J, van den Bosch, H

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Molecular basis of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: Identification of two new mutations von IJlst, L., Oostheim, W., Ruitter, J. P. N., Wanders, R. J. A.

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Molecular basis of Sjögren‐Larsson syndrome: Frequency of the 1297–1298 del GA and 943C→T mutation in 29 patients von IJlst, L., Oostheim, W., Werkhoven, M., Willemsen, M. A. A. P., Wanders, R. J. A.

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Molecular Cloning and Expression of Human L-Pipecolate Oxidase von IJlst, Lodewijk, de Kromme, Isabella, Oostheim, Wendy, Wanders, Ronald J.A.

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Heterozygosity for the common LCHAD mutation (1528G>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low von DEN BOER, M. E. J, IJLST, L, WIJBURG, F. A, OOSTHEIM, W, VAN WERKHOVEN, M. A, VAN PAMPUS, M. G, HEYMANS, H. S. A, WANDERS, R. J. A

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Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome von Langius, Fernanda A.A., Waterham, Hans R., Romeijn, Gerrit Jan, Oostheim, Wendy, de Barse, Martina M.J., Dorland, Lambertus, Duran, Marinus, Beemer, Frits A., Wanders, Ronald J.A., Poll-The, Bwee Tien

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