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6 年
Refsum病(遗传性共济失调性多发性神经炎样病) (原创)
Refsum病即遗传性共济失调性多发性神经炎样病(heredopathia atactica polyneuritis),又称植烷酸贮积症,由于植烷酸在过氧化酶体代谢障碍而在体内贮积而致病,呈常染色体隐性遗传,临床上主要以视网膜色素沉着、周围性神经病、小脑性共济失调为特征,现在已经把它归于遗传性运动和感觉神经病Ⅳ型(HMSNⅣ)。
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