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Dr. S. Ferdinandusse PhD

Position
Other
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 S, Zomer AWM, Komen JC, van den Brink CE, Thanos M, Hamers FPT, Wanders RJA, van der Saag PT, Poll-The BT, Brites P, Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. P NATL ACAD SCI USA 2008;105 (46):17712-17717 [PubMed]
  • Ferdinandusse S, Denis S, Clayton PT, Graham A, Rees JE, Allen JT, McLean BN, Brown AY, Vreken P, Waterham HR, Wanders RJ, Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. NAT GENET 2000;24 (2):188-191 [PubMed]
  • Ferdinandusse S, Kostopoulos P, Denis S, Rusch H, Overmars H, Dillmann U, Reith W, Haas D, Wanders RJA, Duran M, Marziniak M, Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. AM J HUM GENET 2006;78 (6):1046-1052 [PubMed]
  • Ferdinandusse S, Denis S, Mooyer PAW, Dekker C, Duran M, Soorani-Lunsing RJ, Boltshauser E, Macaya A, Gärtner J, Majoie CBLM, Barth PG, Wanders RJA, Poll-The BT, Clinical and biochemical spectrum of D-bifunctional protein deficiency. ANN NEUROL 2006;59 (1):92-104 [PubMed]
  • Ebberink MS, Csanyi B, Chong WK, Denis S, Sharp P, Mooijer PAW, Dekker CJM, Spooner C, Ngu LH, de Sousa C, Wanders RJA, Fietz MJ, Clayton PT, Waterham HR, Ferdinandusse S, Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. J MED GENET 2010;47 (9):608-615 [PubMed]
All Publications
Research programmes

Dr. S. Ferdinandusse PhD ()

Faculty
Dr. S. Ferdinandusse PhD
Prof. dr. R.J.A. Wanders

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

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