Anderson–Fabry Disease Homozygosity: Rare Case of Late-Onset Variant
Anderson–Fabry Disease (AFD) is a rare, X-linked lysosomal storage disorder caused by a mutation in the α-Galactosidase A gene resulting in α-Galactosidase A enzyme (α-Gal A) deficiency. The metabolic defect leads to the progressive accumulation of glycosphingolipids and the structural and functiona...
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| Autors principals: | , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
MDPI AG
2024-04-01
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| Col·lecció: | Cardiogenetics |
| Matèries: | |
| Accés en línia: | https://www.mdpi.com/2035-8148/14/2/6 |
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