Phenotypic Variability of Kidney Involvement in Fabry Disease—Lessons from a Family Study
Fabry disease is an X-linked lysosomal storage disease that leads to the intracellular accumulation of glycosphingolipids in many tissues and fluids, including the kidneys. We report a single family with Fabry disease that includes seven patients carrying the pathogenic variant c.797A>C in the <i>GL...
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| Asıl Yazarlar: | , , , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
MDPI AG
2026-05-01
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| Seri Bilgileri: | Life |
| Konular: | |
| Online Erişim: | https://www.mdpi.com/2075-1729/16/6/866 |
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