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Article

Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients.

European journal of medical genetics - 1 Jan 2000

Marzouki Naima, Benomar Ali, Yahyaoui Mohamed, Birouk Nezha, Elouazzani Mohamed, Chkili Taib, Benlemlih Mohamed

Abstract excerpt

Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disease characterized clinically by neurological symptoms with often striking resemblance to those of Friedreich's ataxia (FA). Molecular analysis is needed for an early differential diagnosis, in order to initiate therapeutic vitamin E supplementation before damage develops. We studied 16 patients from seven Moroccan families presenting an...

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PMID: 15953402
DOI: 10.1016/j.ejmg.2005.01.014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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