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Der Morbus Fabry ist eine X\u2011chromosomal vererbte Speicherkrankheit mit teilweise schwerwiegenden Multiorganbeteiligungen, unter anderem des Herzens und der Niere. Pathogenetisch liegt ein Mangel des lysosomalen Enzyms \u03b1\u2011Galaktosidase\u00a0A (\u03b1-GAL\u00a0A) vor. Unbehandelt ist die Lebenserwartung der Patienten besonders durch kardiale Komplikationen verk\u00fcrzt. Aktuell zugelassene Therapieoptionen sind eine lebenslange Enzymersatztherapie und eine Chaperontherapie.<\/jats:p>","DOI":"10.1007\/s00108-020-00793-1","type":"journal-article","created":{"date-parts":[[2020,5,4]],"date-time":"2020-05-04T16:04:51Z","timestamp":1588608291000},"page":"621-625","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Diffuse hyperkeratotische Papeln am unteren Abdomen und im Genitalbereich bei einem 38\u2011j\u00e4hrigen Patienten"],"prefix":"10.1007","volume":"61","author":[{"given":"T.","family":"Kuntz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Mitrakos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Koushk-Jalali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Oellig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Eismann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Tigges","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Kreuter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,5,4]]},"reference":[{"key":"793_CR1","doi-asserted-by":"publisher","first-page":"1631","DOI":"10.1681\/ASN.2016090964","volume":"28","author":"M Arends","year":"2017","unstructured":"Arends\u00a0M, Wanner\u00a0C, Hughes\u00a0D et\u00a0al (2017) Characterization of classical and nonclassical Fabry disease: a multicenter study. 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