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Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1

BACKGROUND: Sialidosis type 1 is a rare inherited disorder with a high disability. No genetically confirmed mainland Chinese patient with sialidosis type 1 has been reported. This study evaluated the phenotypes and genotypes of mainland Chinese patients with sialidosis type 1. METHODS: It was a retr...

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Detalles Bibliográficos
Autores principales:	Han, Xiaoxu, Wu, Shijing, Wang, Min, Li, Hui, Huang, Yan, Sui, Ruifang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434748/ https://www.ncbi.nlm.nih.gov/pubmed/32453490 http://dx.doi.org/10.1002/mgg3.1316

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