{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,5,8]],"date-time":"2022-05-08T11:41:08Z","timestamp":1652010068924},"reference-count":0,"publisher":"Hogrefe Publishing Group","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Therapeutische Umschau"],"published-print":{"date-parts":[[2011,4,1]]},"abstract":"<jats:p> Angeborene Lebererkrankungen werden in der Regel durch einen Defekt in einem einzelnen Enzym ausgel\u00f6st, welches zu einer gest\u00f6rten Synthese oder Katabolismus eines Proteins, von Kohlenhydraten oder Lipiden f\u00fchrt. Zu den betroffenen Stoffwechselwegen geh\u00f6ren der Aminos\u00e4ure-, Kohlenhydrat-, Proteoglykan- und Sphingolipidstoffwechsel sowie der Eisen- und Bilirubinstoffwechsel, die Blutgerinnungskaskade, der Harnstoffzyklus und eine Reihe von Transportprozessen. Diese angeborenen St\u00f6rungen k\u00f6nnen zu einem strukturellen Leberschaden oder zu Sch\u00e4den an anderen Organsystemen f\u00fchren. In dieser Arbeit werden Pathogenese, Klinik, Diagnostik und Therapie der drei h\u00e4ufigsten angeborenen Lebererkrankungen, der heredit\u00e4ren H\u00e4mochromatose, des Morbus Wilson und des alpha1-Antitrypsin-Mangel, zusammenfassend dargestellt. <\/jats:p>","DOI":"10.1024\/0040-5930\/a000151","type":"journal-article","created":{"date-parts":[[2011,3,30]],"date-time":"2011-03-30T02:33:02Z","timestamp":1301452382000},"page":"201-206","source":"Crossref","is-referenced-by-count":1,"title":["Heredit\u00e4re Lebererkrankungen"],"prefix":"10.1024","volume":"68","author":[{"given":"Nico","family":"B\u00fcttner","sequence":"first","affiliation":[{"name":"Abteilung Innere Medizin II, Medizinische Universit\u00e4tsklinik, Freiburg i. Br."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans-Christian","family":"Spangenberg","sequence":"additional","affiliation":[{"name":"Abteilung Innere Medizin II, Medizinische Universit\u00e4tsklinik, Freiburg i. Br."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"101","container-title":["Therapeutische Umschau"],"original-title":[],"language":"de","link":[{"URL":"https:\/\/econtent.hogrefe.com\/doi\/pdf\/10.1024\/0040-5930\/a000151","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,8]],"date-time":"2022-05-08T10:58:14Z","timestamp":1652007494000},"score":1,"resource":{"primary":{"URL":"https:\/\/econtent.hogrefe.com\/doi\/10.1024\/0040-5930\/a000151"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,4,1]]},"references-count":0,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2011,4,1]]}},"alternative-id":["10.1024\/0040-5930\/a000151"],"URL":"https:\/\/doi.org\/10.1024\/0040-5930\/a000151","relation":{},"ISSN":["0040-5930","1664-2864"],"issn-type":[{"value":"0040-5930","type":"print"},{"value":"1664-2864","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,4,1]]}}}