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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Yeungnam University College of Medicine
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6784698/ https://www.ncbi.nlm.nih.gov/pubmed/31620600 http://dx.doi.org/10.12701/yujm.2018.35.2.232 |