Associated Papers
Genetic Insights and Clinical Implications of NEU1 Mutations in Sialidosis.
Peng ML et al.
Genes, 2025
40004480 (PubMed )
Supplement: genes-16-00151-s001.zip › Table_S1.xlsx › clinvar_result
Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1.
Li Y et al.
Journal of Movement Disorders, 2024
38600684 (PubMed )
Supplement: jmd-23145-Supplementary-Table-2.pdf
Infantile sialidosis: natural history in a preterm infant with two new pathogenic mutations and new ocular findings.
Pérez-Cabeza MI et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2019
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