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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...
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| Publicado no: | Case Rep Ophthalmol |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7383205/ https://ncbi.nlm.nih.gov/pubmed/32774297 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000508066 |
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