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Bergmeister’s papilla in a young patient with type 1 sialidosis: case report
BACKGROUND: Sialidosis is a rare genetic lysosomal storage disorder caused by a deficit of neuraminidase enzyme activity. Patients with sialidosis present various neurological disorders such as: myoclonic epilepsy and hypotonia, often associated with visual impairment. A typical aspect of sialidosis...
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| Publicado no: | BMC Ophthalmol |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7460740/ https://ncbi.nlm.nih.gov/pubmed/32867703 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-020-01628-1 |
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