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Abnormal Metabolism of Glycogen Phosphate as a Cause for Lafora Disease
Lafora disease is a progressive myoclonus epilepsy with onset in the teenage years followed by neurodegeneration and death within 10 years. A characteristic is the widespread formation of poorly branched, insoluble glycogen-like polymers (polyglucosan) known as Lafora bodies, which accumulate in neu...
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| 主要な著者: | , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
American Society for Biochemistry and Molecular Biology
2008
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2590708/ https://ncbi.nlm.nih.gov/pubmed/18852261 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M807428200 |
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