{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:26:30Z","timestamp":1777868790640,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T00:00:00Z","timestamp":1502409600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T00:00:00Z","timestamp":1502409600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Enzyme"],"abstract":"<jats:p>Disturbances of collagen metabolism may result in the manifestation of clinical\nsymptoms. The collagen disorders best characterized are genetically inherited and are known\nto vary at the clinical and molecular levels. Defective posttranslational modifications of collagen\nchains due to mutant enzymes have been found in patients with the Ehlers-Danlos\nsyndrome and cutis laxa. Altered selection of collagen types and defective primary structure of\nthe molecules themselves are prominent features in osteogenesis imperfecta. In other pathological\nconditions, such as Marfan syndrome, no clear molecular defect has been identified as\nyet.<\/jats:p>","DOI":"10.1159\/000459057","type":"journal-article","created":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T17:12:12Z","timestamp":1502471532000},"page":"239-258","source":"Crossref","is-referenced-by-count":4,"title":["Molecular Defects in Inborn Disorders of\nCollagen Metabolism"],"prefix":"10.1159","author":[{"given":"E.","family":"Kirsch","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Ihme","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Muller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Th.","family":"Krieg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2017,8,11]]},"container-title":["Enzyme"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000459057","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:41:52Z","timestamp":1777552912000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000459057"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,11]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000459057","archive":["Portico"],"relation":{},"ISSN":["0013-9432","2504-2564"],"issn-type":[{"value":"0013-9432","type":"print"},{"value":"2504-2564","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,11]]}}}