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http://dx.doi.org/10.3345/kjp.2010.53.2.235

Two cases of Fabry disease identified in brothers  

Cho, Ji Eun (Department of Pediatrics, College of Medicine SoonChunHyang University)
Hong, Yong Hee (Department of Pediatrics, College of Medicine SoonChunHyang University)
Lee, Yang Gyun (Physical Medicine & Rehabilitation, College of Medicine SoonChunHyang University)
Yoo, Han Wook (Department of Pediatrics, Asan Medical Center College of Medicine, University of Ulsan)
Lee, Dong Hwan (Department of Pediatrics, College of Medicine SoonChunHyang University)
Publication Information
Clinical and Experimental Pediatrics / v.53, no.2, 2010 , pp. 235-238 More about this Journal
Abstract
Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the ${\alpha}-galactosidase$ A (GLA) enzyme. We report two cases of Fabry disease in a 12-year-old boy who had acroparesthesia and in his elder brother with milder symptoms who were diagnosed by GLA activity assays and the presence of the GLA gene mutation.
Keywords
Fabry disease; Mutation; Enzyme replacement therapy;
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