Three novel β-hexosaminidase a mutations in obligate carriers of Tay-Sachs disease
✍ Scribed by Jerzy Tomczak; Eugene E. Grebner
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 190 KB
- Volume
- 4
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
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## Abstract Enzyme‐replacement treatment for metabolic storage disorders has been widely studied using model cell culture systems. This study determines the long‐term fate of human hexosaminidase A supplied to Tay‐Sachs disease brain and lung cells. Hex A retention studies showed that the incorpora
## Abstract A human Tay‐Sachs disease (TSD) fetal‐brain‐cell line is a useful model for the disease since the cells lack hexosaminidase A and accumulate the ganglioside, G~M2~. This brain‐cell line was used to assess the effect of hexosaminidase A treatment on G~M2~ storage material. Entry of place