{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T15:46:27Z","timestamp":1761579987544},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1997,6,1]],"date-time":"1997-06-01T00:00:00Z","timestamp":865123200000},"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":[[1997,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The diagnosis of the majority of the known inherited defects of purine and pyrimidine metabolism can be achieved by analysing urinary excretion profiles. A quantitative measurement of the urinary uric acid\/creatinine ratio should be the first approach for purine defects. The general screening system involves separation of the bases and nucleosides by reversed\u2010phase high\u2010performance liquid chromatography and multiwavelength UV detection. The catabolic defects of pyrimidine degradation can be diagnosed by gas chromatography \u2010 mass spectrometry as used for organic acids. For the detection of adenylosuccinase deficiency, several simple but effective thin\u2010layer chromatographic methods are available.<\/jats:p><jats:p>Techniques such as liquid chromatography \u2010 mass spectrometry, direct nega\u2010tive\u2010ion fast\u2010atom bombardment mass spectrometry, and proton nuclear magnetic resonance spectroscopy give promising results, but are not yet being used on a large scale. Patients should keep to a simple diet and preferably be free of medication in order to allow a reliable interpretation of the analytical data.<\/jats:p>","DOI":"10.1023\/a:1005360907238","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T21:48:34Z","timestamp":1040507314000},"page":"227-236","source":"Crossref","is-referenced-by-count":29,"title":["Inherited defects of purine and pyrimidine metabolism: Laboratory methods for diagnosis"],"prefix":"10.1002","volume":"20","author":[{"given":"M.","family":"Duran","sequence":"first","affiliation":[{"name":"Het Wilhelmina Kinderziekenhuis University Children's Hospital  Nieuwegracht 137 Utrecht 3512 LK The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Dorland","sequence":"additional","affiliation":[{"name":"Het Wilhelmina Kinderziekenhuis University Children's Hospital  Nieuwegracht 137 Utrecht 3512 LK The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. E. E.","family":"Meuleman","sequence":"additional","affiliation":[{"name":"Het Wilhelmina Kinderziekenhuis University Children's Hospital  Nieuwegracht 137 Utrecht 3512 LK The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Allers","sequence":"additional","affiliation":[{"name":"Het Wilhelmina Kinderziekenhuis University Children's Hospital  Nieuwegracht 137 Utrecht 3512 LK The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Berger","sequence":"additional","affiliation":[{"name":"Het Wilhelmina Kinderziekenhuis University Children's Hospital  Nieuwegracht 137 Utrecht 3512 LK The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1997,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(84)90014-7"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/25.7.1325"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-4347(00)82746-2"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/42.2.326"},{"key":"e_1_2_1_6_1","first-page":"453","volume-title":"Physician's Guide to the Laboratory Diagnosis of Metabolic Disease","author":"Clayton PT","year":"1996"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(86)90071-9"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(54)91257-X"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(90)93288-Z"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02138774"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711685"},{"key":"e_1_2_1_12_1","first-page":"33","volume-title":"Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases","author":"Hoffmann GF","year":"1996"},{"key":"e_1_2_1_13_1","first-page":"1058","article-title":"An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids","volume":"2","author":"Jaeken J","year":"1984","journal-title":"Lancet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00445919"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)91172-0"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198702000-00006"},{"key":"e_1_2_1_17_1","first-page":"397","volume-title":"Techniques in Diagnostic Human Biochemical Genetics. A Laboratory Manual","author":"Simmonds HA","year":"1991"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005308923168"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005304722259"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-4347(00)81638-2"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(69)90231-9"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01811328"},{"issue":"1","key":"e_1_2_1_23_1","first-page":"3","article-title":"1H\u2010NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism","volume":"19","author":"Wevers RA","year":"1996","journal-title":"J Inher Metab Dis"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(96)70322-0"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1005360907238","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1005360907238","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T02:58:57Z","timestamp":1694746737000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1005360907238"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,6]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1997,6]]}},"alternative-id":["10.1023\/A:1005360907238"],"URL":"https:\/\/doi.org\/10.1023\/a:1005360907238","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,6]]}}}