Associated Papers
Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I.
Du YC et al.
Orphanet Journal of Rare Diseases, 2024
Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature.
Cao LX et al.
World Journal of Clinical Cases, 2021
Clinical and genetic characteristics of type I sialidosis patients in mainland China.
Lv RJ et al.
Annals of Clinical and Translational Neurology, 2020
Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene.
Fan SP et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2020
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