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...
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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
Korean Pediatric Society,
2010-02-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |