Article
[Tay-Sachs disease].
Nihon rinsho. Japanese journal of clinical medicine - 1 Sept 1993
Tanaka A
Abstract excerpt
GM2-gangliosidosis is a group of neurological disorders resulting from genetically defective catabolism, and consequent abnormal accumulation, of GM2-ganglioside. Three major types are distinguished: the B variant (Tay-Sachs disease), the O variant (Sandhoff disease), and the AB variant, caused b...
Topics
- Age of Onset
- Gene Frequency
- Humans
- Infant
- Mutation
- RNA, Messenger
- Tay-Sachs Disease
- beta-N-Acetylhexosaminidases
