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Galactosialidosis Type IIb with Bilateral Macular Cherry-Red Spots but Mild Dysfunction
Galactosialidosis is a rare metabolic disorder resulting from mutations in the CTSA gene. Few studies have reported on the ocular findings of galactosialidosis type IIb in detail. We report on a case of galactosialidosis, the diagnosis of which was suggested by bilateral macular cherry-red spots, wh...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
S. Karger AG
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7383205/ https://www.ncbi.nlm.nih.gov/pubmed/32774297 http://dx.doi.org/10.1159/000508066 |