Fabry Disease and Central Nervous System Involvement: From Big to Small, from Brain to Synapse
Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) secondary to mutations in the <i>GLA</i> gene that causes dysfunctional activity of lysosomal hydrolase α-galactosidase A and results in the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-G...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-03-01
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| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/24/6/5246 |