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) 
1 Citations

Lysosomal Storage Disorders

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