- 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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- 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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- Progressive Myoclonus Epilepsy Associated with Macular Cherry-Red Spots
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Kang KS, Yun CH, Lee SK
- KMID: 2343046
- J Korean Neurol Assoc.
- 2003 Apr;21(2):204-206.
Myoclonus, generalized epilepsy, and progressive neurological decline characterize progressive myoclonus epilepsy. A 25-year-old woman was admitted for the evaluation of seizure, progressive myoclonus and ataxic gait. Her symptoms had developed... -
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- A case of Niemann-Pick disease type A
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Yu HY, Oh JE, Park JS, Kim MH, Kim SD, Jung KS
- KMID: 2278511
- Korean J Pediatr.
- 2006 Dec;49(12):1358-1362.
- doi: 10.3345/kjp.2006.49.12.1358
Niemann-Pick disease is a group of autosomal recessive disorders associated with hepatosplenomegaly, variable neurologic deficits, and the storage of sphingomyelin and other lipids. Seven cases have been reported in Korea.... -
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