Articles with "patients sialidosis" as a keyword



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

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Published in 2020 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.1316

Abstract: 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… read more here.

Keywords: sialidosis; patients sialidosis; mainland chinese; sialidosis type ... See more keywords