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Galactosialidosis: historic aspects and overview of investigated and emerging treatment options
INTRODUCTION: Galactosialidosis is a glycoprotein storage disease caused by mutations in the CTSA gene, encoding lysosomal protective protein/cathepsin A (PPCA). The enzyme’s catalytic activity is distinct from its protective function towards β-galactosidase (β-GAL) and neuraminidase 1 (NEU1), with...
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| Izdano u: | Expert Opin Orphan Drugs |
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| Glavni autori: | , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2016
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5461780/ https://ncbi.nlm.nih.gov/pubmed/28603679 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/21678707.2016.1266933 |
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