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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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Detalles Bibliográficos
Autores principales:	Rossi, Settimio, Gesualdo, Carlo, Tartaglione, Antonio, Bilo, Leonilda, Coppola, Antonietta, Simonelli, Francesca
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460740/ https://www.ncbi.nlm.nih.gov/pubmed/32867703 http://dx.doi.org/10.1186/s12886-020-01628-1

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