Associated Papers
Morquio-B disease: Clinical and genetic characteristics of a distinct GLB1-related dysostosis multiplex.
Abumansour IS et al.
Jimd Reports, 2020
SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.
Ou L et al.
Clinical Genetics, 2018
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
Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.
Hinek A et al.
American Journal of Human Genetics, 2000
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