http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2021302435-A1
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_58c8cf5e272691db3c376434b0aa7f99 |
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-04 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-385 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-38 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-6848 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-6854 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-68 |
| filingDate | 2021-03-31-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_05a0b0c95a09d85ca854e8d1705c6a16 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_b01c9398af78a4d2e7beace0888ac0a1 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_794966b4e108fcd698abd9c290ea821d http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_b0b1637f960f188dd7b767fbb96f68e4 |
| publicationDate | 2021-09-30-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | US-2021302435-A1 |
| titleOfInvention | Proteomic screening for lysosomal storage diseases |
| abstract | Early detection of lysosomal storage diseases (LSDs) including Mucopolysaccharidosis Type I (MPS I) and Pompe Disease can greatly improve patient outcome as each disease can be fatal once symptoms emerge. Screening for MPS I and Pompe Disease using biological samples including dried blood spots (DBS), buccal swab, peripheral blood mononuclear cells (PBMCs), or white blood cells (WBCs) is described. The disclosed methods and assays provide a robust way to screen newborns for LSDs. The disclosed methods and assays can also allow rapid prediction of whether a patient with LSD will develop an immune response to enzyme replacement therapy (ERT), thus improving treatment for patients with LSDs. The disclosed methods and assays can also further reduce the number of false positives caused by pseudo deficiency cases of LSD, such as MPS I and Pompe Disease. |
| priorityDate | 2020-03-31-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 277.