Current treatment trends in fabry disease
β Scribed by Gabor Linthorst
- Book ID
- 114122956
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 289 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0149-2918
No coin nor oath required. For personal study only.
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## Abstract Fabry disease is an Xβlinked lysosomal disorder that results from a deficiency of the lysosomal enzyme Ξ±βgalactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different tissues. Classical Fabry disease affects various organs. Clinical man
We investigated 16 patients with Fabry's disease (eight hemizygous men and eight heterozygous women) in one family. We used constant current perception threshold (CPT) testing, which evaluated three major sensory nerve fiber populations, to assess subjective complaints of pain and paresthesias. We a