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Article

Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective.

European journal of pediatrics - 1 Feb 2020

Schoenaker M H D, Blom M, de Vries M C, Weemaes C M R, van der Burg M, Willemsen M A A P

Abstract excerpt

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 and families, the topic of an early A-T diagnosis was discussed in relation to the recent introduction of neonatal...

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Identifiers

PMID: 31709473
DOI: 10.1007/s00431-019-03479-5
PMCID: PMC6970962

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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