| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_1e18c7e548ce14832e87e11832c19dd9 |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/Y10S436-817
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/Y10S436-811
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/Y10T436-25375
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/Y10T436-24
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/Y10T436-21 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-743 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N24-00
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-74 |
| filingDate |
2002-02-15-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| grantDate |
2004-10-26-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_ccd13103e221b3e0118f10363a2c077a |
| publicationDate |
2004-10-26-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
US-6808932-B1 |
| titleOfInvention |
Diagnosis of Smith-Lemli-Optiz syndrome |
| abstract |
The invention provides a non-invasive assay for the detection of a SLOS affected individual by determining the ratio of at least one of the specific SLOS steroid analytes, dehydro-estriol (8-DHE3) and a dehydro-pregnanetriol (7-DHPT) to their normal steroid counterparts estriol (E3) and pregnanetriol (PT), respectively. 8-DHE3 and 7-DHPT represent metabolites which accumulate in the blood and urine of an individual with SLOS or an individual carrying a SLOS affected fetus. The invention provides for a reliable and reproducible method of screening women for SLOS affected fetuses early on in pregnancy. |
| isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2009264836-A1
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2018246128-A1
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2011118686-A1
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-10071003-B2
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-7192779-B1
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/GB-2557875-A |
| priorityDate |
2002-02-15-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |