发明名称 DIAGNOSIS AND TREATMENT OF MULTIPLE SULFATASE DEFICIENCY AND OTHER SULFATASE DEFICIENCIES USING A FORMYLGLYCINE GENERATING ENZYME (FGE)
摘要 This invention relates to methods and compositions for the diagnosis and treatment of Multiple Sulfatase Deficiency (MSD) as well as other sulfatase deficiencies. More specifically, the invention relates to isolated molecules that modulate post-translational modifications on sulfatases. Such modifications are essential for proper sulfatase function.
申请公布号 EP1592786(B1) 申请公布日期 2011.11.23
申请号 EP20040709824 申请日期 2004.02.10
申请人 SHIRE HUMAN GENETIC THERAPIES, INC. 发明人 VON FIGURA, KURT;SCHMIDT, BERNHARD;DIERKS, THOMAS;HEARTLEIN, MICHAEL, W.;BALLABIO, ANDREA;COSMA, MARIA, PIA
分类号 C12N9/02;A61K31/7088;A61K38/00;A61K38/44;C12N15/52;C12Q1/68;G01N33/68 主分类号 C12N9/02
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