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Narrative review on Morbus Fabry: diagnosis and management of cardiac manifestations
Fabry disease (FD) is an X-linked lysosomal storage disorder due to reduced or undetectable α-galactosidase A (AGAL-A) enzyme activity caused by pathogenic variants in the AGAL-A gene (GLA). Tissue and organ changes are caused by widespread progressive accumulation of globotriaosylceramide (Gb(3)) a...
Gespeichert in:
| Veröffentlicht in: | Cardiovasc Diagn Ther |
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| Hauptverfasser: | , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
AME Publishing Company
2021
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8102243/ https://ncbi.nlm.nih.gov/pubmed/33968642 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/cdt-20-593 |
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