Fabry Disease: A Turkish Case with a Novel Mutation and Dermatological Manifestations
Fabry disease is a rare, X-linked disease, caused by the deficiency of lysosomal and #945;-galactosidase. Clinical fetaures are; acroparesthesia, unexplained fever, hypohidrosis and angiokeratomas. Untreated cases die early from cardiac complications, renal insuffiency or stroke. Currently there is...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Cukurova University
2015-03-01
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| Series: | Çukurova Üniversitesi Tıp Fakültesi Dergisi |
| Subjects: | |
| Online Access: | http://www.scopemed.org/fulltextpdf.php?mno=193349 |