Associated Papers
Morquio-B disease: Clinical and genetic characteristics of a distinct GLB1-related dysostosis multiplex.
Abumansour IS et al.
Jimd Reports, 2020
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
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
Hofer D et al.
Clinical Genetics, 2010
Novel beta-galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts.
Gucev ZS et al.
American Journal of Medical Genetics. Part A, 2008
Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.
Santamaria R et al.
Journal of Lipid Research, 2007
Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.
Santamaria R et al.
Human Mutation, 2006
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