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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Библиографические подробности
Опубликовано в: :Mov Disord Clin Pract
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley & Sons, Inc. 2020
Предметы:
Case Series with Literature Reviews
Online-ссылка: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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