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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Sacha Ferdinandusse

Laboratory Genetic Metabolic Diseases

Academic Medical Center at the University of Amsterdam




Name/email consistency: high



  • Laboratory Genetic Metabolic Diseases, Academic Medical Center at the University of Amsterdam, Amsterdam, Netherlands. 2003 - 2010
  • Academic Medical Center, Department of Clinical Chemistry (Laboratory of Genetic Metabolic Diseases), Emma's Children Hospital, University of Amsterdam, Netherlands. 2008


  1. Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy. Ferdinandusse, S., Barker, S., Lachlan, K., Duran, M., Waterham, H.R., Wanders, R.J., Hammans, S. J. Neurol. Neurosurg. Psychiatr. (2010) [Pubmed]
  2. Toxicity of peroxisomal C27-bile acid intermediates. Ferdinandusse, S., Denis, S., Dacremont, G., Wanders, R.J. Mol. Genet. Metab. (2009) [Pubmed]
  3. Bile acids: the role of peroxisomes. Ferdinandusse, S., Denis, S., Faust, P.L., Wanders, R.J. J. Lipid Res. (2009) [Pubmed]
  4. Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. Ferdinandusse, S., Zomer, A.W., Komen, J.C., van den Brink, C.E., Thanos, M., Hamers, F.P., Wanders, R.J., van der Saag, P.T., Poll-The, B.T., Brites, P. Proc. Natl. Acad. Sci. U.S.A. (2008) [Pubmed]
  5. Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency. Ferdinandusse, S., Denis, S., Hogenhout, E.M., Koster, J., van Roermund, C.W., IJlst, L., Moser, A.B., Wanders, R.J., Waterham, H.R. Hum. Mutat. (2007) [Pubmed]
  6. Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ferdinandusse, S., Denis, S., Mooyer, P.A., Dekker, C., Duran, M., Soorani-Lunsing, R.J., Boltshauser, E., Macaya, A., Gärtner, J., Majoie, C.B., Barth, P.G., Wanders, R.J., Poll-The, B.T. Ann. Neurol. (2006) [Pubmed]
  7. Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. Ferdinandusse, S., Ylianttila, M.S., Gloerich, J., Koski, M.K., Oostheim, W., Waterham, H.R., Hiltunen, J.K., Wanders, R.J., Glumoff, T. Am. J. Hum. Genet. (2006) [Pubmed]
  8. Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. Ferdinandusse, S., Kostopoulos, P., Denis, S., Rusch, H., Overmars, H., Dillmann, U., Reith, W., Haas, D., Wanders, R.J., Duran, M., Marziniak, M. Am. J. Hum. Genet. (2006) [Pubmed]
  9. Peroxisomes and bile acid biosynthesis. Ferdinandusse, S., Houten, S.M. Biochim. Biophys. Acta (2006) [Pubmed]
  10. Developmental changes of bile acid composition and conjugation in L- and D-bifunctional protein single and double knockout mice. Ferdinandusse, S., Denis, S., Overmars, H., Van Eeckhoudt, L., Van Veldhoven, P.P., Duran, M., Wanders, R.J., Baes, M. J. Biol. Chem. (2005) [Pubmed]
  11. Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids. Ferdinandusse, S., Denis, S., Van Roermund, C.W., Wanders, R.J., Dacremont, G. J. Lipid Res. (2004) [Pubmed]
  12. Studies on the metabolic fate of n-3 polyunsaturated fatty acids. Ferdinandusse, S., Denis, S., Dacremont, G., Wanders, R.J. J. Lipid Res. (2003) [Pubmed]
  13. Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency. Ferdinandusse, S., Finckh, B., de Hingh, Y.C., Stroomer, L.E., Denis, S., Kohlschütter, A., Wanders, R.J. Mol. Genet. Metab. (2003) [Pubmed]
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