Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder

por Maxit, C., Denzler, I., Marchione, D., Agosta, G., Koster, J., Wanders, R. J. A., Ferdinandusse, S., Waterham, H. R.
Publicado no JIMD Rep (2016)

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

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

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

por 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.
Publicado em 2002

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

por 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
Publicado em 2012

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

por 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. 
Publicado em 2007

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

por 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.
Publicado no JIMD Rep (2015)