Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE)

Journal of Inherited Metabolic Disease

Volumn 25, Issue 7, 2002, Pages 603-604

  Fairbanks, L D ^a   Marinaki, A M ^a   Carrey, E A ^a   Hammans, S R ^b   Duley, J A ^a  

^a GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^b SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DEOXYURIDINE; DEOXYURIDINE PHOSPHATE; DEOXYURIDINE TRIPHOSPHATE DERIVATIVE; MITOCHONDRIAL DNA; THYMIDINE; THYMIDINE PHOSPHORYLASE; THYMIDYLATE SYNTHASE; THYMINE; URACIL;

ADULT; AMINO ACID METABOLISM; AMINO ACID URINE LEVEL; ARTICLE; BIOACCUMULATION; CASE REPORT; DNA SYNTHESIS; ENCEPHALOMYOPATHY; ENZYME DEFICIENCY; ENZYME INHIBITION; FEMALE; GENE DELETION; HUMAN;

ADULT; BIOLOGICAL MARKERS; DEOXYURIDINE; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; THYMIDINE PHOSPHORYLASE;

EID: 0036881423     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1022007827133     Document Type: Article

References (3)

1. Hirano M, Garcia-de-Yebenes J, Jones AC (1999) Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283: 689-692.
2. Simmonds HA, Duley JA, Davies PM (1990) Analysis of purines and pyrimidines in blood, urine, and other physiological fluids. In Hommes FA, ed. Techniques in Diagnostic Human Biochemical Genetics. New York: Wiley-Liss, 397-424.
3. Spinazzola A, Marit R, Nishino I, et al (2002) Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem 277: 4128-4133.