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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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Detalhes bibliográficos
Publicado no:Expert Opin Orphan Drugs
Main Authors: Annunziata, Ida, d’Azzo, Alessandra
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Acesso em linha: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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