Two cases of Fabry disease identified in brothers
@article{Cho2010TwoCO, title={Two cases of Fabry disease identified in brothers}, author={Ji Eun Cho and Yong Hee Hong and Yang Gyun Lee and Han-Wook Yoo and Dong Hwan Lee}, journal={Korean Journal of Pediatrics}, year={2010}, volume={53}, pages={235-238} }
= Abstract = Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the -galactosidase A (GLA) enzyme. We report two cases of Fabry disease in a 12-year-old boy who had acroparesthesia α and in his elder brother with milder symptoms who were diagnosed by GLA activity assays and the presence of the GLA gene mutation. (Korean J Pediatr 2010;53:235-238)
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