{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T01:58:26Z","timestamp":1777946306111,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2009,4,24]],"date-time":"2009-04-24T00:00:00Z","timestamp":1240531200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2009,4,24]],"date-time":"2009-04-24T00:00:00Z","timestamp":1240531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Haemostasis"],"abstract":"<jats:p>Classic homocystinuria is an autosomal recessive metabolic disease due to a cystathionine-\u03b2-synthase deficiency with consequent blocking of homocysteine and serine condensation for producing cystathionine. The characteristic biochemical abnormalities in the blood and urine are: abnormal accumulation of methionine, abnormal presence of homocystine and low values of cystathionine, cysteine or cystine (disulfide of the cysteine). The most frequent clinical signs are: subluxation of the lenses, mental retardation of different degrees, long bones excessively lengthened, scoliosis, susceptibility to arterial and venous thromboembolism. The latter is frequent after surgery, and may be life-threatening. This disease must be differentiated from Marfan\u2019s syndrome via laboratory tests.<\/jats:p>","DOI":"10.1159\/000216090","type":"journal-article","created":{"date-parts":[[2009,4,24]],"date-time":"2009-04-24T09:41:27Z","timestamp":1240566087000},"page":"10-13","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and Laboratory Features of Homocystinuria"],"prefix":"10.1159","author":[{"given":"E.","family":"Cacciari","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Salardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2009,4,24]]},"container-title":["Haemostasis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/216090","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000216090","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T16:38:47Z","timestamp":1777739927000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000216090"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,4,24]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000216090","archive":["Portico"],"relation":{},"ISSN":["0301-0147","1423-0038"],"issn-type":[{"value":"0301-0147","type":"print"},{"value":"1423-0038","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,4,24]]}}}