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Unusual phenotype of glucose transport protein type 1 deficiency syndrome: A case report and literature review
The glucose transport protein type 1 (GLUT1) deficit causes a chronic brain energy failure. The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dysto...
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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: |
Medknow Publications & Media Pvt Ltd
2014
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4040030/ https://ncbi.nlm.nih.gov/pubmed/24891901 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/1817-1745.131481 |
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