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Ataxia telangiectasia: learning from previous mistakes
Ataxia telangiectasia is an early onset neurodegenerative disorder. We report a case of childhood onset ataxia and ocular telangiectasia, presenting with pulmonary infection. The patient was diagnosed as ataxia telangiectasia. The patient succumbed to death owing to late diagnosis and sepsis.
保存先:
| 出版年: | BMJ Case Rep |
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| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Publishing Group
2012
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4544110/ https://ncbi.nlm.nih.gov/pubmed/23242084 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2012-007246 |
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