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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...
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| Publicado no: | Appl Clin Genet |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Dove
2021
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| Assuntos: | |
| Acesso em linha: | 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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