Fabry's Disease.
- 1 January 1992
- journal article
- case report
- Published by Japanese Society of Internal Medicine in Internal Medicine
- Vol. 31 (5) , 682-685
- https://doi.org/10.2169/internalmedicine.31.682
Abstract
A 20-year-old man presented with generalized acquired anhidrosis and heat intolerance which was confirmed by a sweat test. Other clinical features included severe pain of the extremities and cutaneous angiokeratomas. On electronmicroscopy, granules specific for Fabry'sdisease were observed in the endothelial cells. Biochemical examination revealed a decreased level of serum α-galactosidase A. These findings confirmed the diagnosis of Fabry's disease.(Internal Medicine 31 : 682-685, 1992)Keywords
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