- 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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- An Anesthetic Experience in a Patient with Tay-Sachs Disease : A case report
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Kim SS, Cho SJ, Jung HS
- KMID: 2236653
- Korean J Anesthesiol.
- 2007 Jan;52(1):107-110.
- doi: 10.4097/kjae.2007.52.1.107
Tay-Sachs Disease (TSD), the most common form of GM(2) gangliosidosis, is an autosomal recessive inborn lysosomal glycosphingolipid storage disease which is resulted from the mutations that affect the alpha-subunit locus... -
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- Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program
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Yoo HW, Astrin KH, Desnick RJ
- KMID: 1421957
- J Korean Med Sci.
- 1993 Feb;8(1):84-91.
- doi: 10.3346/jkms.1993.8.1.84
Tay-Sachs disease (GM2 gangliosidosis, type 1; TSD) is an autosomal recessive GM2 gangliosidosis resulting from the deficient activity of the lysosomal hydrolase beta-hexosaminidase A (Hex A). With a carrier frequency... -
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