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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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Autors principals: Tropak, Michael B., Reid, Stephen P., Guiral, Marianne, Withers, Stephen G., Mahuran, Don
Format: Artigo
Idioma:Inglês
Publicat: 2004
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Accés en línia: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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