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 man aged 54 years presented multiple symptoms (acroparesthesia, familial deafness, cardiomyopathy, diarrhea, adenopathy with infiltration of frothy macrophages, pancytopenia with a dense marrow, chronic meningitis, renal failure) associated with intermittent fever, with feverish attacks and a temperature of 40 degrees C, and with a severe biologic febrile syndrome. Fabry's disease was diagnosed only after 3 years of fruitless explorations. The reasons for this delay are analysed and it is suggested than Fabry's disease be added to the list of conditions responsible for fever or for a persistent inflammatory syndrome.
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PMID:[Fabry's disease. Rare etiology of a long-term inflammatory syndrome. Apropos of a case]. 309 72