Associated Papers
GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.
D'Souza P et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38313286 (PubMed )
Supplement: media-1.xlsx › Table_S1
SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.
Ou L et al.
Clinical Genetics, 2018
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis.
Takai T et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2013
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.
Higaki K et al.
Human Mutation, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File011.xls › TypeI_
beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
Morrone A et al.
Human Mutation, 2000
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