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GM1 Gangliosidosis—A Mini-Review
GM1 gangliosidosis is a progressive, neurosomatic, lysosomal storage disorder caused by mutations in the GLB1 gene encoding the enzyme β-galactosidase. Absent or reduced β-galactosidase activity leads to the accumulation of β-linked galactose-containing glycoconjugates including the glycosphingolipi...
Autores principales: | Nicoli, Elena-Raluca, Annunziata, Ida, d’Azzo, Alessandra, Platt, Frances M., Tifft, Cynthia J., Stepien, Karolina M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8446533/ https://www.ncbi.nlm.nih.gov/pubmed/34539759 http://dx.doi.org/10.3389/fgene.2021.734878 |
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