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Fabry Disease p.M290I Mutation is Related to Organ Involvement: A Case Report
Fabry disease (FD) is an X-linked hereditary disease. It results from mutations in the GLA gene, leading to deficient activity of the enzyme alpha-galactosidase A (α-Gal A) and progressive accumulation of undegraded glycosphingolipids in cell lysosomes. Enzyme replacement therapy (ERT) can improve t...
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| Veröffentlicht in: | Cureus |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Cureus
2021
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8065947/ https://ncbi.nlm.nih.gov/pubmed/33907643 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.14100 |
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