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A Case of Tay-Sachs Disease in Korea Diagnosed by Enzyme Assay and DNA Analysis

Hyun-Seung Jin, Jin-Ho Choi, Han-Wook Yoo

Clin Exp Pediatr. 2004;47(12):1360-1363. Published online December 15, 2004

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 by deficiency of the isoenzyme β-hexosaminidase A, produced in the endoplasmic reticulum. Patients with Tay-Sachs disease are characterized by normal motor development in the first few months of life, followed...

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