Medizinische Universität Graz - Research portal
Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Weidemann, F; Niemann, M; Sommer, C; Beer, M; Breunig, F; Wanner, C.
Interdisciplinary approach towards female patients with Fabry disease
Eur J Clin Invest. 2012; 42(4):455-462
Doi: 10.1111/j.1365-2362.2011.02614.x
(- Case Report)
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- Co-authors Med Uni Graz
- Beer Meinrad
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- 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. Design 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Brain Diseases - diagnosis Brain Diseases - genetics Brain Diseases - metabolism
- Cardiomyopathies - diagnosis Cardiomyopathies - genetics Cardiomyopathies - metabolism
- Fabry Disease - diagnosis Fabry Disease - genetics Fabry Disease - metabolism
- Female -
- Glycosphingolipids - metabolism
- Humans -
- Kidney Diseases - diagnosis Kidney Diseases - genetics Kidney Diseases - metabolism
- Middle Aged -
- Patient Care Team -
- Severity of Illness Index -
- Trihexosylceramides - metabolism
- Young Adult -
- alpha-Galactosidase - metabolism
- Find related publications in this database (Keywords)
- Diagnostic
- Fabry disease
- lysosomal storage disorder
- therapy
- women