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European Journal of Human Genetics : EJHG|April 21, 2001
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?H D Bakker, M L de Sonnaville, P Vreken, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiencyP Vreken, A B Van Kuilenburg, R Meinsma, et al.
European Journal of Cancer (Oxford, England : 1990)|February 21, 1998
Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicityA B Van Kuilenburg, P Vreken, L V Beex, et al.
American Journal of Human Genetics|August 24, 2001
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesisH R Waterham, J Koster, G J Romeijn, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|January 13, 2001
Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD geneA B van Kuilenburg, J Haasjes, D J Richel, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|November 6, 2001
Overview of common inherited metabolic diseases in a Southern Chinese population of Hong KongN L Tang, J Hui, L K Law, et al.
The Netherlands Journal of Medicine|June 23, 2000
Normal carnitine levels in patients with chronic fatigue syndromeP M Soetekouw, R A Wevers, P Vreken, et al.
Biochimica Et Biophysica Acta|November 5, 1999
cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionaseP Vreken, A B van Kuilenburg, N Hamajima, et al.
Nature Genetics|February 2, 2000
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathyS Ferdinandusse, S Denis, P T Clayton, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 16, 1998
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiencyE G van Grunsven, E van Berkel, L Ijlst, et al.
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