Clinical variability in three Danish patients with dihydropyrimidine dehydrogenase deficiency all homozygous for the same mutation.
Christensen
E
E
Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.
Cezanne
I
I
Kjaergaard
S
S
Hørlyk
H
H
Faurholt Pedersen
V
V
Vreken
P
P
van Kuilenburg
A B
AB
Van Gennip
A H
AH
D002461:Cell Line, Transformed; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D042943:Dihydrouracil Dehydrogenase (NADP); D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009426:Netherlands; D010088:Oxidoreductases / Q000172:deficiency* / Q000235:genetics*; D010432:Pentoxyl / Q000031:analogs & derivatives / Q000097:blood / Q000652:urine; D013941:Thymine / Q000097:blood / Q000652:urine; D014498:Uracil / Q000097:blood / Q000652:urine
C008055:5-hydroxymethyluracil; D014498:Uracil; D010432:Pentoxyl; D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP); D013941:Thymine