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...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , , , , |
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| Fformat: | Artigo |
| Iaith: | Inglês |
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LED Edizioni Universitarie
2016-11-01
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| Cyfres: | Neuropsychological Trends |
| Pynciau: | |
| Mynediad Ar-lein: | http://www.ledonline.it/NeuropsychologicalTrends/allegati/NeuropsychologicalTrends_20_Razza.pdf |
| Tagiau: |
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
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