Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder

по Maxit, C., Denzler, I., Marchione, D., Agosta, G., Koster, J., Wanders, R. J. A., Ferdinandusse, S., Waterham, H. R.
Опубликовано в: JIMD Rep (2016)

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

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

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

по 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.
Опубликовано 2002

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

по 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
Опубликовано 2012

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

по 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. 
Опубликовано 2007

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

по 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.
Опубликовано в: JIMD Rep (2015)