Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder

door Maxit, C., Denzler, I., Marchione, D., Agosta, G., Koster, J., Wanders, R. J. A., Ferdinandusse, S., Waterham, H. R.
Gepubliceerd in JIMD Rep (2016)

Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy

door Ferdinandusse, S., Kostopoulos, P., Denis, S., Rusch, H., Overmars, H., Dillmann, U., Reith, W., Haas, D., Wanders, R. J. A., Duran, M., Marziniak, M.
Gepubliceerd in 2006

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

door 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.
Gepubliceerd in 2002

The Inflammatory Response in Acyl-CoA Oxidase 1 Deficiency (Pseudoneonatal Adrenoleukodystrophy)

door El Hajj, H. I., Vluggens, A., Andreoletti, P., Ragot, K., Mandard, S., Kersten, S., Waterham, H. R., Lizard, G., Wanders, R. J. A., Reddy, J. K., Cherkaoui-Malki, Mustapha
Gepubliceerd in 2012

Genetic Basis for Correction of Very-Long-Chain Acyl–Coenzyme A Dehydrogenase Deficiency by Bezafibrate in Patient Fibroblasts: Toward a Genotype-Based Therapy

door Gobin-Limballe, S. , Djouadi, F. , Aubey, F. , Olpin, S. , Andresen, B. S. , Yamaguchi, S. , Mandel, H. , Fukao, T. , Ruiter, J. P. N. , Wanders, R. J. A. , McAndrew, R. , Kim, J. J. , Bastin, J. 
Gepubliceerd in 2007

Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy

door Körver-Keularts, I. M. L. W., de Visser, M., Bakker, H. D., Wanders, R. J. A., Vansenne, F., Scholte, H. R., Dorland, L., Nicolaes, G. A. F., Spaapen, L. M. J., Smeets, H. J. M., Hendrickx, A. T. M., van den Bosch, B. J. C.
Gepubliceerd in JIMD Rep (2015)