Vreken, Peter
Amsterdam UMC Location University of Amsterdam · Emma Kinderziekenhuis · University of Amsterdam
5 papers on CoChat
Most cited papers
- Verified
Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene
Waterham, H. R., Wijburg, F. A., Hennekam, R. C. M., Vreken, P., Poll-The, B. T., Dorland, L., Duran, M., Jira, P. E., Smeitink, J. A. M., Wevers, R. A., et al. (1998) · The American Journal of Human Genetics
Metabolism and Genetic DisordersCholesterol and Lipid Metabolism
Cited by 296
- Verified
Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy
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., et al. (2000) · Nature Genetics
Hereditary Neurological DisordersMetabolism and Genetic Disorders
Cited by 262
- Verified
Disorders of mitochondrial fatty acyl‐CoA β‐oxidation
Wanders, R. J. A., Vreken, P., den Boer, M. E. J., Wijburg, F. A., Van Gennip, A. H., & IJlst, L. (1999) · Journal of Inherited Metabolic Disease
Metabolism and Genetic DisordersMitochondrial Function and Pathology
Cited by 257
- Verified
Peroxisomal fatty acid α- and β -oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases
Wanders, R. J. A., Vreken, P., Ferdinandusse, S., Jansen, G. A., Waterham, H. R., van Roermund, C. W. T., & Van Grunsven, E. G. (2001) · Biochemical Society Transactions
Metabolism and Genetic DisordersLipid metabolism and biosynthesis
Cited by 225
- Verified
Peroxisomal d -hydroxyacyl-CoA dehydrogenase deficiency: Resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency
van Grunsven, E. G., van Berkel, E., Ijlst, L., Vreken, P., de Klerk, J. B. C., Adamski, J., Lemonde, H., Clayton, P. T., Cuebas, D. A., & Wanders, R. J. A. (1998) · Proceedings of the National Academy of Sciences
Metabolism and Genetic DisordersNeurological diseases and metabolism
Cited by 152
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