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JIMD Reports|March 10, 2017
Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?M Fleger, J Willomitzer, R Meinsma, 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.Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|May 15, 2001
Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiencyA B van Kuilenburg, E W Muller, J Haasjes, 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.Nucleosides, Nucleotides & Nucleic Acids|October 27, 2006
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiencyA B P van Kuilenburg, R Meinsma, B Assman, et al.European Journal of Cancer (Oxford, England : 1990)|February 25, 2019
Catecholamine excretion profiles identify clinical subgroups of neuroblastoma patientsI R N Verly, R Leen, J R Meinsma, et al.Nucleosides, Nucleotides & Nucleic Acids|June 15, 2010
Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYDA B P van Kuilenburg, J Meijer, G Gökcay, et al.Human Genetics|March 10, 1999
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiencyA B Van Kuilenburg, P Vreken, N G Abeling, et al.Pageof 2