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Ocular manifestations in a patient with de novo Fabry disease
Fabry disease (FD) is an X-linked, recessively inherited, rare, progressive, disorder of glycosphingolipid metabolism affecting multiple organs resulting in organ dysfunction. It is rare to find only one FD affected subject with a de novo mutation. Here we report a case of a 41-year-old Asian male d...
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| Vydáno v: | Yeungnam Univ J Med |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Yeungnam University College of Medicine
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6784698/ https://ncbi.nlm.nih.gov/pubmed/31620600 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12701/yujm.2018.35.2.232 |
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