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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Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2019
Materias:
Original Article
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

Internet

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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