Fabry's Disease.
1992; The Japanese Society of Internal Medicine; Volume: 31; Issue: 5 Linguagem: Inglês
10.2169/internalmedicine.31.682
ISSN1349-7235
AutoresHaruka Kato, Kenichi Sato, Susumu Hattori, S. Ikemoto, Mitsuyuki Shimizu, Yukihide Isogai,
Tópico(s)Trypanosoma species research and implications
ResumoA 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)
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