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Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydropyrimidine dehydrogenase deficiency
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Dihydrothymine dehydrogenase deficiency in a family leading to elevated levels of uracil and thymine
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Correlation between catalytic activity and protein content for the polymorphically expressed dihydropyrimidine dehydrogenase in human lymphocytes
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Diagnostic analysis, clinical importance and molecular basis of dihydropyrimidine dehydrogenase deficiency
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Meinsma R, Fernandez-Salguero P, van Kuilenburg AB, van Gennip AH, Gonzalez FJ. Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea. DNA Cell Biol 1995: 14, 1-6.
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Takai S, Fernandez-Salguero P, Kimura S, Gonzalez FJ, Yamada K. Assignment of the human dihydropyrimidine dehydrogenase gene (DPYD) to chromosome region Ip22 by fluorescence in situ hybridization. Genomics 1994: 24, 613-614.
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A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency
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Vreken P, Van Kuilenburg ABP, Meinsma R, Smit GPA, Bakker HD, De Abreu RA, van Gennip AH. A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency. J Inherit Metab Dis 1996: 19, 645-654.
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Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism
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Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity
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