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Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature

BACKGROUND: Type 1 sialidosis, also known as cherry-red spot-myoclonus syndrome, is a rare autosomal recessive lysosomal storage disorder presenting in the second decade of life. The most common symptoms are myoclonus, ataxia and seizure. It is rarely encountered in the Chinese mainland. CASE SUMMAR...

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Detalles Bibliográficos
Autores principales:	Cao, Lan-Xiao, Liu, Ying, Song, Zhao-Jun, Zhang, Bao-Rong, Long, Wen-Ying, Zhao, Guo-Hua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Baishideng Publishing Group Inc 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7829734/ https://www.ncbi.nlm.nih.gov/pubmed/33553400 http://dx.doi.org/10.12998/wjcc.v9.i3.623

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