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Browsing by Author Meinsma, R.

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Full TextIssue DateTitleAuthor(s)
2006Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.Kuilenburg, A.B.P. van; Meinsma, R.; Assman, B.; Hoffman, G.F.; Voit, T., et al
2004beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.Kuilenburg, A.B.P. van; Meinsma, R.; Beke, E.; Assmann, B.; Ribes, A., et al
1997Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicityKuilenburg, A.B.P. van; Vreken, P.; Beex, L.V.A.M.; Meinsma, R.; Lenthe, G.H. van, et al
1997Identification of a four-base deletion (delTCAT296-299) in dihydropyrimidine dehydrogenase gene with variable clinical expressionVreken, P.; Kuilenburg, A.B.P. van; Meinsma, R.; Abreu, R.A. de; Gennip, A.H. van
1996A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency.Vreken, P.; Kuilenburg, A.B.P. van; Meinsma, R.; Smit, G.P.A.; Bakker, H., et al
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