Fabry Disease: A Turkish Case with a Novel Mutation and Dermatological Manifestations

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...

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Bibliographic Details
Main Authors: Neslihan Onenli Mungan, Fatih Temiz, Berna seker Yilmaz, Mehmet Nuri Ozbek, Mehmet Karakas, Serdar Ceylaner, Ali Kemal Topaloglu, Bilgin Yuksel
Format: Article
Language:English
Published: Cukurova University 2015-03-01
Series:Çukurova Üniversitesi Tıp Fakültesi Dergisi
Subjects:
Fabry Disease
angiokeratoma
enzyme replacement therapy
Online Access:http://www.scopemed.org/fulltextpdf.php?mno=193349

Internet

http://www.scopemed.org/fulltextpdf.php?mno=193349

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