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Gaucher-Krankheit

  • S. vom Dahl
  • U. Gebert
  • L. Poll

Zusammenfassung

Die Gaucher-Krankheit gehört zu den lysosomalen Speicherkrankheiten, von denen derzeit >50 bekannt sind (Abb. 46.1). Die Gaucher-Krankheit wird durch den autosomal-rezessiven Defekt eines lysosomalen Enzyms, der Glukosylzeramid-β-Glukosidase (β-Glukozerebrosidase) verursacht (Abb. 46.2). Das Gen für das Enzym liegt auf Chromosom 1 (1q21-q31). Das Enzym besteht aus 497 Aminosäuren und hat in der glykosylierten Form ein Molekulargewicht von ca. 65 kDa.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • S. vom Dahl
    • 1
  • U. Gebert
    • 2
  • L. Poll
    • 3
  1. 1.Klinik für Gastroenterologie, Hepatologie und InfektiologieUniversitätsklinikum DüsseldorfDüsseldorf
  2. 2.Klinik für Innere MedizinSt. Franziskus-HospitalKöln
  3. 3.Abteilung RadiologieBerufsgenossenschaftliche Unfallklinik DuisburgDuisburg

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