The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease.
作者信息
Schiffmann Raphael, Bichet Daniel G, Benjamin Elfrida, Wu Xiaoyang, Giugliani Roberto
机构信息
Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX, USA.
Hôpital du Sacré-Coeur, University of Montréal, Montreal, Quebec, Canada.
出版信息
Mol Genet Metab Rep. 2019 Jul 19;20:100494. doi: 10.1016/j.ymgmr.2019.100494. eCollection 2019 Sep.
Abstract
摘要
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The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease.米加司他GLP-HEK检测是确定法布里病患者是否适合治疗的金标准。
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本文引用的文献
1
Inter-assay variability influences migalastat amenability assessments among Fabry disease variants.分析内变异性影响 Fabry 病变异体中米加司他的药敏评估。
Mol Genet Metab. 2019 May;127(1):74-85. doi: 10.1016/j.ymgme.2019.04.005. Epub 2019 Apr 15.
2
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.用于识别拟接受米加司他治疗的法布里病患者的药物遗传学验证。
Genet Med. 2017 Apr;19(4):430-438. doi: 10.1038/gim.2016.122. Epub 2016 Sep 22.
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