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Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents’ perspective
Ataxia telangiectasia (A-T) is a severe neurodegenerative disorder with variable immunodeficiency. Together with the Dutch A-T community, we investigated the opinion of A-T parents on an early A-T diagnosis in the asymptomatic phase of the disease. During an annual national meeting for A-T patients...
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| 出版年: | Eur J Pediatr |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Springer Berlin Heidelberg
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6970962/ https://ncbi.nlm.nih.gov/pubmed/31709473 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00431-019-03479-5 |
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