Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation.
Van Kuilenburg
A B
AB
Academic Medical Center, University of Amsterdam, Emma Children's Hospital, The Netherlands.
Vreken
P
P
Riva
D
D
Botteon
G
G
Abeling
N G
NG
Bakker
H D
HD
Van Gennip
A H
AH
D001120:Arginine / Q000235:genetics; D002675:Child, Preschool; D003545:Cysteine / Q000235:genetics; D042943:Dihydrouracil Dehydrogenase (NADP); D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010088:Oxidoreductases / Q000172:deficiency* / Q000235:genetics*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics
D001120:Arginine; D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP); D003545:Cysteine