A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation

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• 作者：Han-Jui Lee ; Ting-Rong Hsu ; Sheng-Che Hung ; Wen-Chung Yu ; Tzu-Hung Chu…
• 关键词：Agalsidase alfa ; Central nervous system manifestations ; Fabry Outcome Survey ; Later ; onset Fabry disease ; Magnetic resonance imaging
• 刊名：BMC Neurology
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：17
• 期：1
• 全文大小：945KB
• 刊物主题：Neurology; Neurochemistry; Neurosurgery;
• 出版者：BioMed Central
• ISSN：1471-2377
• 卷排序：17

文摘

BackgroundPatients with the later-onset IVS4+919G>A (IVS4) Fabry mutation are known to have positive central nervous system involvement compared with age- and sex-matched controls. This study compares central nervous system manifestations in patients with the IVS4 mutation or classical Fabry mutations.