Clinical and biochemical findings in six patients with pyrimidine degradation defects
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00735416
Reference10 articles.
1. Bakkeren JAJM, De Abreu RA, Sengers RCA, Gabre�ls FJM, Maas JM, Renier WO (1984) Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydropyrimidine dehydrogenase deficiency.Clin Chim Acta 140: 247?256.
2. Berger R, Stoker-de-Vries SA, Wadman SK et al (1984) Dihydropyrimidine dehydrogenase deficiency leading to thymine-uracilura. An inborn error of pyrimidine metabolism.Clin Chim Acta 141: 227?234.
3. Braakhekke JP, Renier WO, Gabre�ls FJM, De Abreu RA, Bakkeren JAJM and Sengers RCA (1987) Dihydropyrimidine dehydrogenase deficiency. Neurological aspects.J Neurol Sci 78: 71?77.
4. Brockstedt M, Jakobs C, Smit LM, Van Gennip AH, Berger R (1990) A new case of dihydropyrimidine dehydrogenase deficiency.J Inher Metab Dis 13: 121?124.
5. Duran M, Rovers P, De Bree PK et al (1990) Dihydropyrimidinuria.Lancet 336: 817?818.
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