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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Udgivet i:Eur J Pediatr
Main Authors: Schoenaker, M. H. D., Blom, M., de Vries, M. C., Weemaes, C. M. R., van der Burg, M., Willemsen, M. A. A. P.
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2019
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Original Article
Online adgang: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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