Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder

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

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

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

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

par 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.
Publié 2002

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

par 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
Publié 2012

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

par 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. 
Publié 2007

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

par 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.
Publié dans JIMD Rep (2015)