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An electrophoretic variant of beta-galactosidase with altered catalytic properties in a patient with GM1 gangliosidosis.
In nine patients with GM1 gangliosidosis, liver ganglioside GM1 beta-galactosidase (EC 3.2.1.23) activity ranged from less than 0.01% to 0.05% of normal. In a tenth patient's liver, much higher activity was found (0.5% of normal). In this patient the residual enzyme had the same molecular weigh...
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| Publicado en: | Proc Natl Acad Sci U S A |
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| Autores principales: | , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
National Academy of Sciences
1975
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC432279/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/804170/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.72.1.240 |
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