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Yang Gyun Lee (Lee YG)

1 Article

Case Report

Two cases of Fabry disease identified in brothers

Ji Eun Cho, Yong Hee Hong, Yang Gyun Lee, Han Wook Yoo, Dong Hwan Lee

Clin Exp Pediatr. 2010;53(2):235-238. Published online February 15, 2010

Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the α-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...

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