发明名称 COMPOSITIONS AND METHODS FOR PREDICTING AGE OF ONSET OF A LYSOSOMAL STORAGE DISEASE OR A DISEASE ASSOCIATED WITH A LYSOSOMAL DEFECT
摘要 The present invention features diagnostic compositions and methods for predicting the age of onset of a lysosomal storage disease or a disease associated with a lysosomal defect in subject.
申请公布号 US2016025712(A1) 申请公布日期 2016.01.28
申请号 US201414776440 申请日期 2014.03.14
申请人 The United States of America, as represented by th e Secretary, Department of Health & Human Service 发明人 Pavan William J.;Rodriguez Jorge L.;Larson Denise M.;Porter, III Forbes D.
分类号 G01N33/52;G01N33/58 主分类号 G01N33/52
代理机构 代理人
主权项 1. A method of predicting the age of disease onset in a subject having a lysosomal storage disease or a disease associated with a lysosomal defect, the method comprising (a) detecting fluorescence in a cell sample of the subject before and after contacting the cell with a detectable probe that accumulates in acidic cellular compartments; and (b) calculating the fold-change in fluorescence and comparing it to a reference, wherein the fold-change in fluorescence is indicative of the age of lysosomal storage disease onset or onset of a disease associated with a lysosomal defect.
地址 Rockville MD US