Associated Papers
Chemical chaperone treatment for galactosialidosis: Effect of NOEV on β-galactosidase activities in fibroblasts.
Hossain MA et al.
Brain & Development, 2016
A case of galactosialidosis with a homozygous Q49R point mutation.
Matsumoto N et al.
Brain & Development, 2008
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
Takiguchi K et al.
Journal of Human Genetics, 2000
Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.
Callahan JW
Biochimica Et Biophysica Acta, 1999
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
Zhou XY et al.
Human Molecular Genetics, 1996
[Multifunctional protective protein and its genetic deficiency 'galactosialidosis'].
Sakuraba H et al.
Seikagaku. the Journal of Japanese Biochemical Society, 1993
Protective protein gene mutations in galactosialidosis.
Shimmoto M et al.
The Journal of Clinical Investigation, 1993
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