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Article

Ataxia with vitamin E deficiency associated with deafness.

The Turkish journal of pediatrics - 1 Jan 2000

Kara Bülent, Uzümcü Abdullah, Uyguner Oya, Rosti Rasim Ozgür, Koçbaş Ayça, Ozmen Meral, Kayserili Hülya

Abstract excerpt

Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive disorder, usually with a phenotype resembling Friedreich ataxia, caused by selective impairment of gastrointestinal vitamin E absorption. Vitamin E supplementation improves symptoms and prevents disease progress. In North Africa and Southern Europe, AVED is as common as Friedreich ataxia. There are no reported cases from Turkey. We herein...

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Source

Identifiers

PMID: 19102053

Genes

TTPA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency.Semantic proximity Read ↗

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[Clinical and genetic analysis of a patient with Ataxia and vitamin E deficiency due to homozygous variant of TTPA gene].Semantic proximity Read ↗

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