- A Case of Tay-Sachs Disease in Korea Diagnosed by Enzyme Assay and DNA Analysis
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Jin HS, Choi JH, Yoo HW
- KMID: 2279500
- Korean J Pediatr.
- 2004 Dec;47(12):1360-1363.
Tay-Sachs disease is an autosomal recessive, neurodegenerative disorder that results from excessive storage of the cell membrane glycolipid, and GM2 ganglioside within the lysosomes of cells. This disease is caused... -
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