Description of a new mutation in a female patient with Fabry disease
Fabry disease is caused by intracellular accumulation of glycosphingolipids in various tissues, secondary to mutations in the GLA gene (Xq22).Classically described as affecting hemizygous males with no residual alpha-galactosidase A activity, it is now known to affect both sexes, with later and less...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2011-10-01
|
| Series: | Revista Portuguesa de Cardiologia (English Edition) |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2174204911700277 |