טוען...
Pharmacological Enhancement of β-Hexosaminidase Activity in Fibroblasts from Adult Tay-Sachs and Sandhoff Patients
Tay-Sachs and Sandhoff diseases are lysosomal storage disorders that result from an inherited deficiency of β-hexosaminidase A (αβ). Whereas the acute forms are associated with a total absence of hexosaminidase A and early death, the chronic adult forms exist with activity and protein levels of ~5%,...
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| Main Authors: | , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
2004
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2904802/ https://ncbi.nlm.nih.gov/pubmed/14724290 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M308523200 |
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