The Central Nervous System Involvement in Fabry Disease
Fabry disease (FD) is an X-linked, lysosomal storage disorder caused by a mutation in the alpha galactosidase (GLA) gene leading to a deficiency in α-galactosidase A enzyme (α-Gal A) activity, which in turn results in accumulation of glycosphingolipids in different cells. The 2 major clinical phenot...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
SciELO
2016-07-01
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| Series: | Journal of Inborn Errors of Metabolism and Screening |
| Online Access: | https://doi.org/10.1177/2326409816661361 |