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Fabry disease and its cardiac involvement
Fabry disease (FD) is an X‐linked lysosomal storage disorder that results from a deficiency of α‐galactosidase A activity. This enzymatic defect leads to the progressive accumulation of glycosphingolipids throughout the body and causes multisystemic problems including neurological, ocular, skin, ren...
Shranjeno v:
| izdano v: | J Gen Fam Med |
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| Glavni avtor: | |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
John Wiley and Sons Inc.
2017
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5689443/ https://ncbi.nlm.nih.gov/pubmed/29264031 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jgf2.76 |
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