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Beyond Typical Ataxia Telangiectasia: How to Identify the Ataxia Telangiectasia‐Like Disorders

BACKGROUND: Ataxia telangiectasia is one of the most common causes of autosomal recessive cerebellar ataxias. However, absence of telangiectasia, normal levels of alpha‐fetoprotein and negative genetic test may direct to alternative diagnosis with similar phenotypes such as ataxia telangiectasia‐lik...

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書誌詳細
出版年:Mov Disord Clin Pract
主要な著者: Raslan, Ivana Rocha, de Assis Pereira Matos, Paula Camila Alves, Boaratti Ciarlariello, Vinícius, Daghastanli, Karyme Hussein, Rosa, Augusto Bragança Reis, Arita, Juliana Harumi, Aranda, Carolina Sanchez, Barsottini, Orlando Graziani Povoas, Pedroso, José Luiz
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley & Sons, Inc. 2020
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7780949/
https://ncbi.nlm.nih.gov/pubmed/33426167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.13110
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