Dihydropyrimidine dehydrogenase deficiency presenting at birth
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-005-4218-0
Reference5 articles.
1. Bakker HD, Rubio Gozalbo ME, Van Gennip AH (1994) Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation and ocular abnormalities. J Inherit Metab Dis 17: 640–641.
2. Van Kuilenburg ABP, Vreken P, Abeling NG, et al (1999a) Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum Genet 104: 1–9.
3. Van Kuilenburg ABP, Vreken P, Riva D, et al (1999b) Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenease deficiency due to homozygosity for C29R mutation. J Inherit Metab Dis 22: 191–192.
4. Wadman SK, Berger R, Duran M, et al (1985) Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism. J Inherit Metab Dis 8(Supplement 2): 113–114.
5. Wilcken B, Hammond J, Berger R, Wise G, James C (1985) Dihydropyrimidine dehydrogenase deficiency—a further case. J Inherit Metab Dis 8(Supplement 2): 115–116.
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