Search results

Sevin, C., Ferdinandusse, S., Waterham, H. R., Wanders, R. J., & Aubourg, P. (2011). Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. Orphanet Journal of Rare Diseases, 6(1), 8. https://doi.org/10.1186/1750-1172-6-8

Ferdinandusse, S., Barker, S., Lachlan, K., Duran, M., Waterham, H. R., Wanders, R. J. A., & Hammans, S. (2010). Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy. Journal of Neurology, Neurosurgery and Psychiatry, 81(3), 310-312. https://doi.org/10.1136/jnnp.2009.176255

Ebberink, M. S., Csanyi, B., Chong, W. K., Denis, S., Sharp, P., Mooijer, P. A. W., Dekker, C. J. M., Spooner, C., Ngu, L. H., de Sousa, C., Wanders, R. J. A., Fietz, M. J., Clayton, P. T., Waterham, H. R., & Ferdinandusse, S. (2010). Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. Journal of Medical Genetics, 47(9), 608-615. https://doi.org/10.1136/jmg.2009.074302

Ferdinandusse, S., van Grunsven, E. G., Oostheim, W., Denis, S. W., Hogenhout, E. M., Ijlst, L., van Roermund, C. W. T., Waterham, H. R., Goldfischer, S., & Wanders, R. J. A. (2002). Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein. American Journal of Human Genetics, 70, 1589-1593. https://doi.org/10.1086/340970

McLean, B. N., Allen, J., Ferdinandusse, S., & Wanders, R. J. A. (2002). A new defect of peroxisomal function involving pristanic acid: a case report. Journal of Neurology, Neurosurgery and Psychiatry, 72(3), 396-399. https://doi.org/10.1136/jnnp.72.3.396