Associated Papers
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2026
41593770 (PubMed )
Supplement: 13023_2026_4195_MOESM3_ESM.xlsx › Enzyme_and_molecular_data
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 2025
41516090 (PubMed )
Supplement: ijms-27-00206-s001.zip › Supplementary_Table_S2__Tabassum_et_al.xlsx › Table_S2A
High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.
Feo F et al.
European Journal of Neurology, 2025
N-acetyl-β-D-hexosaminidases mediate the generation of paucimannosidic proteins via a putative noncanonical truncation pathway in human neutrophils.
Ugonotti J et al.
Glycobiology, 2022
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.
Sudrié-Arnaud B et al.
Diagnostics (basel, Switzerland), 2021
A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase.
Kılıç M et al.
Metabolic Brain Disease, 2019
Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on β-hexosaminidase activity in Sandhoff fibroblasts.
Chiricozzi E et al.
Molecular Neurobiology, 2014
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.
Maegawa GH et al.
The Journal of Biological Chemistry, 2007
Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease.
Ozaal S et al.
Child Neurology Open, 0
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