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GM1 Gangliosidosis: Mechanisms and Management

The lysosomal storage disorder, GM1 gangliosidosis (GM1), is a neurodegenerative condition resulting from deficiency of the enzyme β-galactosidase (β-gal). Mutation of the GLB1 gene, which codes for β-gal, prevents cleavage of the terminal β-1,4-linked galactose residue from GM1 ganglioside. Subsequ...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Appl Clin Genet
Egile Nagusiak: Rha, Allisandra K, Maguire, Anne S, Martin, Douglas R
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Dove 2021
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC8044076/
https://ncbi.nlm.nih.gov/pubmed/33859490
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S206076
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