Associated Papers
Sialidosis type 1 in a Turkish family: a case report and review of literatures.
Kılıç M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025
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
Two cases of type I sialidosis and a literature review.
Ding Y et al.
Orphanet Journal of Rare Diseases, 2024
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-1.pdf
Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II.
Eyskens M et al.
Jimd Reports, 2023
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
Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.
Han X et al.
Molecular Genetics & Genomic Medicine, 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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