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
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.
Sudrié-Arnaud B et al.
Diagnostics (basel, Switzerland), 2021
33673364 (PubMed )
Supplement: diagnostics-11-00294-s001.xlsx › TableS1
Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients.
Coutinho MF et al.
Clinical Genetics, 2012
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