foto

S. Ferdinandusse PhD

Position
MD-PhD
Main activities
Patient care, Research
Specialisation
Clinical Biochemical Geneticist, trainee
Focus of research

Inherited metabolic disorders with the emphasis on peroxisomal and mitochondrial fatty acid oxidation disorders. 

Key publications
  • Ferdinandusse Sacha, Zomer Anna W. M., Komen Jasper C., van den Brink Christina E., Thanos Melissa, Hamers Frank P. T., Wanders Ronald J. A., van der Saag Paul T., Poll-The Bwee Tien, Brites Pedro Ataxia with loss of Purkinje cells in a mouse model for Refsum disease Proceedings of the National Academy of Sciences of the United States of America 2008;105 (46):17712-17717 [PubMed]
  • Ferdinandusse S., Denis S., Clayton P. T., Graham A., Rees J. E., Allen J. T., McLean B. N., Brown A. Y., Vreken P., Waterham H. R., Wanders R. J. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy Nature genetics 2000;24 (2):188-191 [PubMed]
  • Ferdinandusse S., Kostopoulos P., Denis S., Rusch H., Overmars H., Dillmann U., Reith W., Haas D., Wanders R. J. A., Duran M., Marziniak M. Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy American journal of human genetics 2006;78 (6):1046-1052 [PubMed]
  • Ferdinandusse Sacha, Denis Simone, Mooyer Petra A. W., Dekker Conny, Duran Marinus, Soorani-Lunsing Roelineke J., Boltshauser Eugen, Macaya Alfons, Gärtner Jutta, Majoie Charles B. L. M., Barth Peter G., Wanders Ronald J. A., Poll-The Bwee Tien Clinical and biochemical spectrum of D-bifunctional protein deficiency Annals of neurology 2006;59 (1):92-104 [PubMed]
  • Ebberink Merel S., Csanyi Barbara, Chong Wui K., Denis Simone, Sharp Peter, Mooijer Petra A. W., Dekker Conny J. M., Spooner Claire, Ngu Lock H., de Sousa Carlos, Wanders Ronald J. A., Fietz Michael J., Clayton Peter T., Waterham Hans R., Ferdinandusse Sacha Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene Journal of medical genetics 2010;47 (9):608-615 [PubMed]
All Publications
Research programmes

Prof. H.R. Waterham PhD (Functional Genetics of Metabolic Diseases)

Prof. R.J.A. Wanders PhD (Biochemistry & Enzymology of Metabolic Disorders)

S. Ferdinandusse PhD (No title specified)

Faculty
Prof. R.J.A. Wanders PhD