GLUT-1 DEFICIENCY: FROM PATHOPHYSILOGY AND GENETICS TO ABROAD CLINICAL SPECTRUM
The classical GLUT-1 deficiency syndrome (GLUT-1 DS, De Vivo disease) was described over 2 decades ago as a metabolic encephalopathy characterized by developmental delay, secondary microcephaly paroxysmal neurological symptoms (epilepsy) and movement disorders. The biochemical parameters of this dis...
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| 第一著者: | |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Association of medical doctors Sanamed Novi Pazar
2016-07-01
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| シリーズ: | Sanamed |
| 主題: | |
| オンライン･アクセス: | http://www.sanamed.rs/OJS/index.php/Sanamed/article/view/128/61 |
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