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.
Females with Fabry's Disease - an Interdisciplinary Diagnostic and Therapeutic Challenge
Med Klin (Munich). 2010; 105(9):627-634
Doi: 10.1007/s00063-010-1102-y
(- Case Report)
Web of Science
PubMed
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FullText_MUG
- Co-authors Med Uni Graz
- Beer Meinrad
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- Abstract:
- Fabry's disease is a rare genetic storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs. Being X-chromosomal-linked, most studies in the past focused on involvement in male patients. However, it has been elucidated recently that female patients can present typical organ involvement and, thus, have to be treated respectively. This synopsis wants to systematically review the typical organ involvement in female Fabry patients. Moreover, therapy recommendations especially for female patients are discussed.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Alleles -
- Cardiomyopathy, Hypertrophic - genetics Cardiomyopathy, Hypertrophic - pathology
- Combined Modality Therapy -
- Cooperative Behavior -
- DNA Mutational Analysis -
- Diagnosis, Differential -
- Fabry Disease - diagnosis Fabry Disease - genetics Fabry Disease - pathology Fabry Disease - therapy
- Female -
- Genetic Diseases, X-Linked - diagnosis Genetic Diseases, X-Linked - genetics Genetic Diseases, X-Linked - pathology Genetic Diseases, X-Linked - therapy
- Genetic Testing -
- Glomerular Filtration Rate - genetics
- Humans -
- Interdisciplinary Communication -
- Kidney Glomerulus - pathology
- Magnetic Resonance Imaging -
- Middle Aged -
- Proteinuria - genetics Proteinuria - pathology
- Stroke - genetics Stroke - pathology
- Young Adult -
- alpha-Galactosidase - genetics
- Find related publications in this database (Keywords)
- Fabry's disease
- Diagnostics
- Therapy
- Lysosomal storage disorder