Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 28-year-old Korean man suffered from generalized acquired anhidrosis and heat intolerance that were confirmed by a sweat test. Other clinical features consistent with Fabry's disease were fever and severe pain of the lower extremities and leg edema. Although the patients lacked cutaneous angiokeratomas, ultrastructural studies of the normal skin demonstrated diagnostic intracytoplasmic inclusions in the endothelial cells and pericytes of dermal vessels, fibroblasts, perineural cells, and secretory cells of eccrine glands. alpha-Galactosidase assay of the patient's leukocytes showed markedly decreased activity, which confirms the diagnosis.
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PMID:Generalized anhidrosis associated with Fabry's disease. 311 82