| 发明名称 |
DIAGNOSIS AND TREATMENT OF MULTIPLE SULFATASE DEFICIENCY AND OTHER 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 |
PT1592786(E) |
申请公布日期 |
2012.01.19 |
| 申请号 |
PT20040709824T |
申请日期 |
2004.02.10 |
| 申请人 |
SHIRE HUMAN GENETIC THERAPIES, INC. |
发明人 |
MICHAEL W. HEARTLEIN;KURT VON FIGURA;BERNHARD SCHMIDT;THOMAS DIERKS;ANDREA BALLABIO;MARIA PIA COSMA |
| 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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