{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:11:56Z","timestamp":1771002716505,"version":"3.50.1"},"reference-count":3,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2002,11,1]],"date-time":"2002-11-01T00:00:00Z","timestamp":1036108800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2002,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the presence of the unusual nucleoside deoxyuridine in the urine of a patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (MIM 603041) due to thymidine phosphorylase (TP:EC 2.4.2.4) deficiency. Thymidine, uracil and thymine were also elevated. We propose that inhibition of thymidylate synthetase by TMP leads to the accumulation of dUMP which may be degraded to deoxyuridine or metabolised to dUTP. Incorporation of dUTP into mtDNA may explain the multiple deletions characteristic of TP deficiency.<\/jats:p>","DOI":"10.1023\/a:1022007827133","type":"journal-article","created":{"date-parts":[[2003,3,22]],"date-time":"2003-03-22T00:25:05Z","timestamp":1048292705000},"page":"603-604","source":"Crossref","is-referenced-by-count":18,"title":["Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE)"],"prefix":"10.1002","volume":"25","author":[{"given":"L. D.","family":"Fairbanks","sequence":"first","affiliation":[{"name":"Purine Research Unit, Department of Chemical Pathology Guy\u2032s and St. Thomas\u2032 Hospital  London"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. M.","family":"Marinaki","sequence":"additional","affiliation":[{"name":"Purine Research Unit, Department of Chemical Pathology Guy\u2032s and St. Thomas\u2032 Hospital  London"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. A.","family":"Carrey","sequence":"additional","affiliation":[{"name":"Purine Research Unit, Department of Chemical Pathology Guy\u2032s and St. Thomas\u2032 Hospital  London"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. R.","family":"Hammans","sequence":"additional","affiliation":[{"name":"Wessex Neurological Centre Southampton General Hospital  Southampton UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. A.","family":"Duley","sequence":"additional","affiliation":[{"name":"Purine Research Unit, Department of Chemical Pathology Guy\u2032s and St. Thomas\u2032 Hospital  London"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,11]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.283.5402.689"},{"key":"e_1_2_1_3_1","first-page":"397","volume-title":"Techniques in Diagnostic Human Biochemical Genetics","author":"Simmonds HA","year":"1990"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111028200"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1022007827133","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1022007827133","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T16:36:32Z","timestamp":1694795792000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1022007827133"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,11]]},"references-count":3,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2002,11]]}},"alternative-id":["10.1023\/A:1022007827133"],"URL":"https:\/\/doi.org\/10.1023\/a:1022007827133","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,11]]}}}