2021 β螺旋蛋白相关性神经变性的临床管理共识

2021-12-02 国外神经内科相关专家小组(统称) Dev Med Child Neurol

β螺旋蛋白相关性神经变性(BPAN)是一种由WD重复蛋白45(WDR45)基因突变引起的X连锁显性遗传性疾病,具有高度临床异质性和遗传异质性。本文主要针对BPAN的评估和治疗提供共识建议。

中文标题:

2021 β螺旋蛋白相关性神经变性的临床管理共识

英文标题:

Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration

发布日期:

2021-12-02

简要介绍:

β螺旋蛋白相关性神经变性(BPAN)是一种由WD重复蛋白45(WDR45)基因突变引起的X连锁显性遗传性疾病,具有高度临床异质性和遗传异质性。本文主要针对BPAN的评估和治疗提供共识建议。

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