英语词汇“ataxia with isolated vitamin e deficiency”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

单词	ataxia with isolated vitamin e deficiency
释义	ataxia with isolated vitamin E deficiency ataxia with isolated vitamin E deficiency An autosomal recessive disorder (OMIM:277460) characterised by spinocerebellar degeneration, ataxia and peripheral neuropathy resembling Friedreich’s ataxia, and markedly reduced plasma levels of vitamin E. Molecular pathology Defects of TTPA, which encodes a protein that selectively and tightly binds alpha-trocopherol (vitamin E), cause ataxia with vitamin E deficiency.
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ataxia with isolated vitamin E deficiency