Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE).
Fairbanks
L D
LD
Purine Research Unit, Department of Chemical Pathology, Guy's and St. Thomas' Hospital, London, UK.
Marinaki
A M
AM
Carrey
E A
EA
Hammans
S R
SR
Duley
J A
JA
D000328:Adult; D015415:Biomarkers / Q000652:urine; D004272:DNA, Mitochondrial / Q000235:genetics / Q000378:metabolism; D003857:Deoxyuridine / Q000652:urine*; D005260:Female; D006801:Humans; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D013939:Thymidine Phosphorylase / Q000172:deficiency*
D015415:Biomarkers; D004272:DNA, Mitochondrial; D013939:Thymidine Phosphorylase; D003857:Deoxyuridine