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...
| Published in: | Neuropsychological Trends |
|---|---|
| Main Authors: | Razza, Grazia, Spadaro, Daniela, Giordano, Antonello, Scalia, Simone, Colomba, Paolo, Zizzo, Carmela, Duro, Giovanni, Iemolo, Francesco |
| Format: | Article |
| Language: | English |
| Published: |
LED Edizioni Universitarie
2016-11-01
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| Subjects: | |
| Online Access: | http://www.ledonline.it/NeuropsychologicalTrends/allegati/NeuropsychologicalTrends_20_Razza.pdf |
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