Scott Dougherty1, Dominique P Germain2, Gavin Y Oudit3,4

  • 1Department of Cardiology, Tseung Kwan O Hospital, Hong Kong, China.

PubMed
概括

法布里病 (FD) 是一种 lysosomal 疾病,导致全球基胺的积累,而法布里心肌病是主要的死亡原因. 诊断依赖于基因检测和先进的成像,可使用酶替代和护送疗法.

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