Article
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.
Human genetics - 1 Jan 1999
Van Kuilenburg A B, Vreken P, Abeling N G, Bakker H D, Meinsma R, Van Lenthe H, De Abreu R A, Smeitink J A, Kayserili H, Apak M Y, Christensen E, Holopainen I, Pulkki K, Riva D, Botteon G, Holme E, Tulinius M, Kleijer W J, Beemer F A, Duran M, Niezen-Koning K E, Smit G P, Jakobs C, Smit L M, Van Gennip A H
Abstract excerpt
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phenotype. In order to understand the genetic and phenotypic basis for DPD deficiency, we have reviewed 17 families presenting 22 patients with complete deficiency of DPD. In this group of patients, 7 different...
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