{"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":1771002716419,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[1983,3,1]],"date-time":"1983-03-01T00:00:00Z","timestamp":415324800000},"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":[[1983,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Five patients with a combined deficiency of xanthine dehydrogenase, sulphite oxidase and, probably, also of aldehyde oxidase are described. This remarkable coincidence of three inborn errors of metabolism in a single individual was demonstrated to result from a deficiency of the \u2018molybdenum cofactor\u2019, an essential constituent of all three enzymes. The main biochemical findings in these patients included: hypouricaemia, xanthinuria, an increased excretion of sulphite, thiosulphate and<jats:italic>S<\/jats:italic>\u2010sulphocysteine and a decreased excretion of inorganic sulphate. Plasma molybdenum was normal. The ultimate diagnosis was made by the measurement of \u2018molybdenum cofactor\u2019 in a liver biopsy specimen in three out of five patients.<\/jats:p><jats:p>The clinical hallmarks in these patients were: feeding difficulties, mental retardation, neurological symptoms, lens dislocation, an abnormal muscle tone, myoclonia and an abnormal physiognomy. The majority of these were already present in the neonatal period. So far, attempts at treatment have been unsuccessful.<\/jats:p>","DOI":"10.1007\/bf01811328","type":"journal-article","created":{"date-parts":[[2005,6,27]],"date-time":"2005-06-27T19:32:36Z","timestamp":1119900756000},"page":"78-83","source":"Crossref","is-referenced-by-count":65,"title":["Absence of hepatic molybdenum cofactor: An inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase"],"prefix":"10.1002","volume":"6","author":[{"given":"S. K.","family":"Wadman","sequence":"first","affiliation":[{"name":"University Children's Hospital \u2018Het Wilhelmina Kinderziekenhuis\u2019  Nieuwe Gracht 137 Utrecht 3512 LK The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Duran","sequence":"additional","affiliation":[{"name":"University Children's Hospital \u2018Het Wilhelmina Kinderziekenhuis\u2019  Nieuwe Gracht 137 Utrecht 3512 LK The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. A.","family":"Beemer","sequence":"additional","affiliation":[{"name":"University Children's Hospital \u2018Het Wilhelmina Kinderziekenhuis\u2019  Nieuwe Gracht 137 Utrecht 3512 LK The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B. P.","family":"Cats","sequence":"additional","affiliation":[{"name":"University Children's Hospital \u2018Het Wilhelmina Kinderziekenhuis\u2019  Nieuwe Gracht 137 Utrecht 3512 LK The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. L.","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Duke University Medical Center  Durham NC 27710 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. V.","family":"Rajagopalan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Duke University Medical Center  Durham NC 27710 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. M.","family":"Saudubray","sequence":"additional","affiliation":[{"name":"H\u00f4pital des Enfants Malades  149 Rue de S\u00e8vres Paris, C\u00e9dex 15 75130 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Ogier","sequence":"additional","affiliation":[{"name":"H\u00f4pital des Enfants Malades  149 Rue de S\u00e8vres Paris, C\u00e9dex 15 75130 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Charpentier","sequence":"additional","affiliation":[{"name":"Laboratoire Biochimie H\u00f4pital de Bic\u00eatre  Kremlin Bic\u00eatre 94270 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Berger","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Groningen  Bloemsingel 10 Groningen 9712 KZ The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. P. A.","family":"Smit","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Groningen  Bloemsingel 10 Groningen 9712 KZ The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Wilson","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children  Great Ormond Street London WC1N 3JH England"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Krywawych","sequence":"additional","affiliation":[{"name":"Rayne Institute University College Hospital Medical School  University Street London WC1E 6JJ England"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1983,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/34.11.2551"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-4347(00)80284-4"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01805591"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000180910"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-2944(67)90007-5"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-08-024398-6.50015-8"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.77.6.3715"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)85945-8"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.79.22.6856"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197711102971902"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(79)90348-6"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4613-4223-6_59"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01811328","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01811328","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T00:52:05Z","timestamp":1694825525000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01811328"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,3]]},"references-count":12,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[1983,3]]}},"alternative-id":["10.1007\/BF01811328"],"URL":"https:\/\/doi.org\/10.1007\/bf01811328","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,3]]}}}