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

Abstract 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...

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Bibliographic Details
Main Authors: Xiaoxu Han, Shijing Wu, Min Wang, Hui Li, Yan Huang, Ruifang Sui
Format: Article
Language:English
Published: Wiley 2020-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
FAF
OCT
Online Access:https://doi.org/10.1002/mgg3.1316