http://rdf.ncbi.nlm.nih.gov/pubchem/patent/EP-3432882-A1
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_3386f5906dc1bdc9c934203594712c66 |
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P3-00 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K9-0053 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K31-445 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P43-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K9-0019 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P3-00 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K31-445 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61P3-00 |
| filingDate | 2017-03-15-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_b98244336606864292e231ffc9c44f23 |
| publicationDate | 2019-01-30-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | EP-3432882-A1 |
| titleOfInvention | Methods of treating fabry disease in patients having the g9331a mutation in the gla gene |
| abstract | 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. |
| priorityDate | 2016-03-22-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 55.