Chemical chaperone therapy: chaperone ef
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Katsumi Higaki; Linjing Li; Udin Bahrudin; Soichiro Okuzawa; Ayumi Takamuram; Ko
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Article
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2011
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John Wiley and Sons
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English
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b-Galactosidase deficiency is a group of lysosomal lipid storage disorders with an autosomal recessive trait. It causes two clinically different diseases, G M1 -gangliosidosis and Morquio B disease. It is caused by heterogeneous mutations in the GLB1 gene coding for the lysosomal acid b-galactosidas