{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T00:05:39Z","timestamp":1761523539496},"reference-count":5,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,9,1]],"date-time":"2005-09-01T00:00:00Z","timestamp":1125532800000},"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":[[2005,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Dihydropyrimidine dehydrogenase (DPD) deficiency (McKusick 274270) is a clinically heterogeneous autosomal recessive disorder of pyrimidine metabolism. DPD is the enzyme that catalyses the first and the rate\u2010limiting step in the catabolism of uracil, thymine and the analogue 5\u2010fluorouracil. To date, more than 30 patients have been diagnosed with a complete enzyme deficiency. Here, we describe the fifth case with a complete DPD deficiency presenting at birth with severe neurological abnormalities. The patient was homozygous for the common splice\u2010site mutation IVS14+1G &gt; A.<\/jats:p>","DOI":"10.1007\/s10545-005-4218-0","type":"journal-article","created":{"date-parts":[[2005,9,7]],"date-time":"2005-09-07T19:05:23Z","timestamp":1126119923000},"page":"793-796","source":"Crossref","is-referenced-by-count":13,"title":["Dihydropyrimidine dehydrogenase deficiency presenting at birth"],"prefix":"10.1002","volume":"28","author":[{"given":"N. A.","family":"Al\u2010Sanna'a","sequence":"first","affiliation":[{"name":"Division of Pediatrics Dhahran Health Center  Saudi Aramco Dhahran Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. B. P.","family":"Van Kuilenburg","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Dhahran Health Center  Saudi Aramco Dhahran Saudi Arabia"},{"name":"Dhahran Health Center  Box 76 Room # A\u2010415\u2010B, Building 61 Saudi Aramco Dhahran 31311 Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T. M.","family":"Atrak","sequence":"additional","affiliation":[{"name":"Academic Medical Center, Emma Children's Hospital and Department of Clinical Chemistry University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. A. Abdul","family":"Jabbar","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Dhahran Health Center  Saudi Aramco Dhahran Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. H.","family":"Van Gennip","sequence":"additional","affiliation":[{"name":"Academic Medical Center, Emma Children's Hospital and Department of Clinical Chemistry University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711611"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00008711"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005470524203"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01811484"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01811485"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-4218-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T01:12:38Z","timestamp":1694740358000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-4218-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,9]]},"references-count":5,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2005,9]]}},"alternative-id":["10.1007\/s10545-005-4218-0"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-4218-0","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,9]]}}}