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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...
Autores principales: | Schoenaker, M. H. D., Blom, M., de Vries, M. C., Weemaes, C. M. R., van der Burg, M., Willemsen, M. A. A. P. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6970962/ https://www.ncbi.nlm.nih.gov/pubmed/31709473 http://dx.doi.org/10.1007/s00431-019-03479-5 |
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