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2. A neonate with recurrent vomiting and generalized hypotonia diagnosed with a deficiency of dihydropyrimidine dehydrogenase. Brussel W; van Kuilenburg AB; Janssens PM Nucleosides Nucleotides Nucleic Acids; 2006; 25(9-11):1099-102. PubMed ID: 17065071 [TBL] [Abstract][Full Text] [Related]
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4. Lack of correlation between phenotype and genotype for the polymorphically expressed dihydropyrimidine dehydrogenase in a family of Pakistani origin. Fernandez-Salguero PM; Sapone A; Wei X; Holt JR; Jones S; Idle JR; Gonzalez FJ Pharmacogenetics; 1997 Apr; 7(2):161-3. PubMed ID: 9170156 [TBL] [Abstract][Full Text] [Related]
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6. Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient. Mazur A; Figurski S; Płoskoń A; Meijer J; Zoetekouw L; Watróbska S; Sykut-Cegielska J; Gradowska W; van Kuilenburg AB Acta Biochim Pol; 2008; 55(4):787-90. PubMed ID: 19081848 [TBL] [Abstract][Full Text] [Related]
7. 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 deficiency. van Kuilenburg AB; Muller EW; Haasjes J; Meinsma R; Zoetekouw L; Waterham HR; Baas F; Richel DJ; van Gennip AH Clin Cancer Res; 2001 May; 7(5):1149-53. PubMed ID: 11350878 [TBL] [Abstract][Full Text] [Related]
8. Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W. Vreken P; Van Kuilenburg AB; Meinsma R; van Gennip AH Hum Genet; 1997 Dec; 101(3):333-8. PubMed ID: 9439663 [TBL] [Abstract][Full Text] [Related]
9. Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria. van Gennip AH; van Lenthe H; Abeling NG; Bakker HD; van Kuilenburg AB J Inherit Metab Dis; 1995; 18(2):185-8. PubMed ID: 7564242 [No Abstract] [Full Text] [Related]
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