Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation
Author:
Affiliation:
1. ; Academic Medical Center; University of Amsterdam, Emma Children's Hospital and Department of Clinical Chemistry; Amsterdam The Netherlands
2. Developmental Neurology Division; Instituto Nazionale Neurologico Carlo Besta; Milan Italy
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005470524203/fullpdf
Reference3 articles.
1. Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism;Berger;Clin Chim Acta,1984
2. Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects;Van Gennip;J Inher Metab Dis,1997
3. Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W;Vreken;Hum Genet,1997
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