𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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.


📜 SIMILAR VOLUMES


Long-term intracellular retention of hex
✍ Steven E. Brooks; Linda M. Hoffman; Daniel Amsterdam; Masazumi Adachi; Larry Sch 📂 Article 📅 1981 🏛 John Wiley and Sons 🌐 English ⚖ 493 KB

## 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

Tay-sachs disease brain cells in culture
✍ Dr. Linda M. Hoffman; Steven E. Brooks; Daniel Amsterdam; John Oropello; Larry S 📂 Article 📅 1980 🏛 John Wiley and Sons 🌐 English ⚖ 324 KB

## 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