Cognitive impairment and Fabry Disease: a case report with mutation S126G
Anderson-Fabry Disease is a lysosomal storage disease, multisystem, progressive, hereditary, linked to the X-chromosome. Specifically, it is characterized by a glycosphingolipid metabolism due to the reduction or absence of Alpha-galactosidase, an enzyme activity lisosomile gene mutation GLA (X...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
LED Edizioni Universitarie
2016-11-01
|
| Series: | Neuropsychological Trends |
| Subjects: | |
| Online Access: | http://www.ledonline.it/NeuropsychologicalTrends/allegati/NeuropsychologicalTrends_20_Razza.pdf |