Associated Papers
Failure of Allogeneic Transplant to Correct Sialidosis Despite Early Diagnosis and Full Donor Engraftment of Non-Carrier Leucocytes.
Jeffreys N et al.
Journal of Inherited Metabolic Disease, 2026
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
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
Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders.
Vanaja MC et al.
The Indian Journal of Medical Research, 2023
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C.
Capitini C et al.
Biomedicines, 2022
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
Sialidosis Type I without a Cherry Red Spot- Is There a Genetic Basis?
Neeraja K et al.
Journal of Movement Disorders, 2021
Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.
Han X et al.
Molecular Genetics & Genomic Medicine, 2020
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
Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India.
Ranganath P et al.
The Indian Journal of Medical Research, 2012
Molecular pathology of NEU1 gene in sialidosis.
Seyrantepe V et al.
Human Mutation, 2003