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Methods of treating fabry disease in patients having the G9331A mutation in the GLA gene
Methods of treating fabry disease in patients having the G9331A mutation in the GLA gene
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机译:在GLA基因中G9331A突变的患者中治疗法布里疾病的方法
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摘要
Provided are methods of treating a patient diagnosed with Fabry disease and methods of enhancing α-galactosidase A in a patient diagnosed with or suspected of having Fabry disease. Certain methods comprise administering to a patient a therapeutically effective dose of a pharmacological chaperone for α-galactosidase A, wherein the patient has a splice site mutation in intron 4 of the nucleic acid sequence encoding α-galactosidase A. Also described are uses of pharmacological chaperones for the treatment of Fabry disease and compositions for use in the treatment of Fabry disease.
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