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Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.
Hamajima N, Kouwaki M, Vreken P, Matsuda K, Sumi S, Imaeda M, Ohba S, Kidouchi K, Nonaka M, Sasaki M, Tamaki N, Endo Y, De Abreu R, Rotteveel J, van Kuilenburg A, van Gennip A, Togari H, Wada Y. Hamajima N, et al. Am J Hum Genet. 1998 Sep;63(3):717-26. doi: 10.1086/302022. Am J Hum Genet. 1998. PMID: 9718352 Free PMC article.
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.
Van Kuilenburg AB, Vreken P, Abeling NG, Bakker HD, Meinsma R, Van Lenthe H, De Abreu RA, Smeitink JA, Kayserili H, Apak MY, Christensen E, Holopainen I, Pulkki K, Riva D, Botteon G, Holme E, Tulinius M, Kleijer WJ, Beemer FA, Duran M, Niezen-Koning KE, Smit GP, Jakobs C, Smit LM, Van Gennip AH, et al. Van Kuilenburg AB, et al. Among authors: de abreu ra. Hum Genet. 1999 Jan;104(1):1-9. doi: 10.1007/pl00008711. Hum Genet. 1999. PMID: 10071185 Review.
Clinical and biochemical aspects of dihydropyrimidinase deficiency.
Van Gennip AH, De Abreu RA, Vreken P, Van Kuilenburg AB. Van Gennip AH, et al. Among authors: de abreu ra. Adv Exp Med Biol. 1998;431:125-8. doi: 10.1007/978-1-4615-5381-6_24. Adv Exp Med Biol. 1998. PMID: 9598044 No abstract available.
138 results