{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T03:42:00Z","timestamp":1777434120778,"version":"3.51.4"},"reference-count":0,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2004,3,1]],"date-time":"2004-03-01T00:00:00Z","timestamp":1078099200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ann Clin Biochem"],"published-print":{"date-parts":[[2004,3,1]]},"abstract":"<jats:p>Background: Molybdenum cofactor deficiency (resulting in combined deficiencies of the enzymes sulphite oxidase, xanthine dehydrogenase and aldehyde dehydrogenase) and isolated sulphite oxidase deficiency are inherited metabolic diseases which follow an autosomal recessive trait of inheritance. Detection of these diseases in selective screening for inborn errors of metabolism is not easy because relevant metabolites are either not routinely determined or are unstable.<\/jats:p>\n                  <jats:p>Methods: We have searched for additional markers for these diseases and studied plasma total homocysteine (determined by enzyme immunoassay) and S-sulphonation of transthyretin (assessed by electrospray ionization mass spectrometry).<\/jats:p>\n                  <jats:p>Results and conclusion: We found total homocysteine concentrations below the limit of quantification (&lt;1 \u00b5mol\/L) in all samples of patients with sulphite oxidase deficiency studied in this regard and that the proportion of S-sulphonated transthyretin is clearly increased in such samples. Our observations suggest additional tools for selective screening and diagnostic work-up of patients suspected of having sulphite oxidase deficiency.<\/jats:p>","DOI":"10.1258\/000456304322880078","type":"journal-article","created":{"date-parts":[[2004,3,9]],"date-time":"2004-03-09T18:09:39Z","timestamp":1078855779000},"page":"157-159","source":"Crossref","is-referenced-by-count":22,"title":["New approaches towards laboratory diagnosis of isolated sulphite oxidase                deficiency"],"prefix":"10.1177","volume":"41","author":[{"given":"J\u00f6rn Oliver","family":"Sass","sequence":"first","affiliation":[{"name":"Stoffwechsellabor Zentrum f\u00fcr Kinderheilkunde und Jugendmedizin,\r                  Universit\u00e4tsklinikum Freiburg, D-79106 Freiburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toyofumi","family":"Nakanishi","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology, Osaka Medical College, Osaka,\r                  Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takako","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology, Osaka Medical College, Osaka,\r                  Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Shimizu","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology, Osaka Medical College, Osaka,\r                  Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2004,3,1]]},"container-title":["Annals of Clinical Biochemistry: International Journal of Laboratory Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1258\/000456304322880078","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1258\/000456304322880078","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T11:52:50Z","timestamp":1777377170000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1258\/000456304322880078"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,3,1]]},"references-count":0,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,3,1]]}},"alternative-id":["10.1258\/000456304322880078"],"URL":"https:\/\/doi.org\/10.1258\/000456304322880078","relation":{},"ISSN":["0004-5632","1758-1001"],"issn-type":[{"value":"0004-5632","type":"print"},{"value":"1758-1001","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,3,1]]}}}