title: Interdisciplinary approach towards female patients with Fabry disease.
abstract: BACKGROUND
  Fabry disease (FD) is a rare X-linked lysosomal storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs.
  
  
  METHODS
  Being X-chromosomal-linked, most studies in the past have focused on involvement in male patients. However, it has been elucidated recently that female patients can present typical organ involvement and thus need to be treated, respectively.
  
  
  CONCLUSIONS
  This review wants to give a systematical overview of the typical organ involvement in female patients with FD. Moreover, therapy recommendations especially for female patients are discussed.
authors: Medizinische Klinik und Poliklinik I, Universitätsklinik Würzburg, Würzburg, Germany. weidemann_f@medizin.uni-wuerzburg.de
authors: Frank
authors: F
authors: Weidemann
authors: Markus
authors: M
authors: Niemann
authors: Claudia
authors: C
authors: Sommer
authors: Meinrad
authors: M
authors: Beer
authors: Frank
authors: F
authors: Breunig
authors: Christoph
authors: C
authors: Wanner
mesh_terms: D000328:Adult; D001927:Brain Diseases / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D009202:Cardiomyopathies / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D005260:Female; D006028:Glycosphingolipids / Q000378:metabolism; D006801:Humans; D007674:Kidney Diseases / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D008875:Middle Aged; D010348:Patient Care Team; D012720:Severity of Illness Index; D014281:Trihexosylceramides / Q000378:metabolism; D055815:Young Adult; D000519:alpha-Galactosidase / Q000378:metabolism
chemical_list: D006028:Glycosphingolipids; D014281:Trihexosylceramides; C018549:globotriaosylceramide; D000519:alpha-Galactosidase