Associated Papers
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
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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