The Role of Kidney Biopsy in Fabry Disease
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency and subsequent accumulation of glycosphingolipids, including globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), in multiple organs. This acc...
שמור ב:
| Principais autores: | , , , , , , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
MDPI AG
2025-03-01
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| סדרה: | Biomedicines |
| נושאים: | |
| גישה מקוונת: | https://www.mdpi.com/2227-9059/13/4/767 |
| תגים: |
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