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Article

Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency.

The Journal of pediatrics - 1 Feb 1999

Schuelke M, Mayatepek E, Inter M, Becker M, Pfeiffer E, Speer A, Hübner C, Finckh B

Abstract excerpt

Dysfunction of the alpha-tocopherol transfer protein causes ataxia with isolated vitamin E deficiency. A 14-year-old male patient presented with ataxia and mental symptoms caused by a homozygous (552G-->A) alpha-tocopherol transfer protein mutation. After initiation of high-dosage alpha-tocopherol therapy, the organic mental syndrome disappeared and cognitive function improved rapidly. Neurologic recovery,...

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PMID: 9931538
DOI: 10.1016/s0022-3476(99)70424-5

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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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Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency.PMID 9931538Read ↗

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Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.Semantic proximity Read ↗

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