参考文献

[1]中国法布里病专家协作组.中国法布里病(Fabry病)诊治专家共识 .中华医学杂志,2013,93(4):243-247.

[2]马杰,李雪梅.12例Fabry病患者临床及病理分析.基础医学与临床,2015,35(1):90-94.

[3]Alberto Ortiza,Dominique P. Fabry disease revisited:Management and treatment recommendations for adult patients. Molecular Genetics and Metabolism,2018,123:416-427.

[4]Germain DP,Hughes DA. Treatment of Fabry’s disease with the pharmacologic chaperone migalastat. N Engl J Med,2016,375(6):545-555.