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Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis

INTRODUCTION: Sialidosis is a neurosomatic, lysosomal storage disease (LSD) caused by mutations in the NEU1 gene, encoding the lysosomal sialidase NEU1. Deficient enzyme activity results in impaired processing/degradation of sialo-glycoproteins, and accumulation of oversialylated metabolites. Sialid...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Expert Opin Orphan Drugs
Egile Nagusiak: d’Azzo, Alessandra, Machado, Eda, Annunziata, Ida
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2015
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4777310/
https://ncbi.nlm.nih.gov/pubmed/26949572
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1517/21678707.2015.1025746
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