Dihydropyrimidinase deficiency: Confirmation of the enzyme defect in dihydropyrimidinuria
Author:
Affiliation:
1. ; Departments of Pediatrics and Clinical Chemistry; Academic Medical Center; Amsterdam
2. ; Departments of Pediatrics and Neurology; University Hospital Nijmegen; Nijmegen The Netherlands
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005309423960/fullpdf
Reference6 articles.
1. Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism;Duran;J Inher Metab Dis,1991
2. Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay;Henderson;J Inher Metab Dis,1993
3. Dihydropyrimidinuria: the first case in Japan;Ohba;Adv Exp Med Biol,1994
4. Measurement of protein using bicinchoninic acid;Smith;Anal Biochem,1985
5. Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation;Van Gennip;Clin Chem,1993
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