Two cases of Fabry disease identified in brothers
Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the ?#7015;alactosidase 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 di...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2010-02-01
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| Series: | Korean Journal of Pediatrics |
| Online Access: | http://www.kjp.or.kr/upload/2010530219-20100343101843.PDF |