Predicate |
Object |
assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_3155069b833b184bcd4ad12f7100dd4c |
classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-2857 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2560-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2030-027 |
classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-6896 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N30-7233 |
classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B20-00 |
filingDate |
2019-02-19-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_5487e82c40e478b649eaba8b2120f13b http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_0ed0a886d2890de700302ea61edcc153 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_4aa0f3a0af6a16316fcc526cc2d34124 |
publicationDate |
2020-12-30-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber |
EP-3756187-A1 |
titleOfInvention |
Oxopiperidine quantitation by mass spectrometry |
abstract |
Methods for determining the presence or amount of oxopiperidine in a biological sample using mass spectrometry. These methods may be used to efficiently and non-invasively diagnose pyridoxine dependent epilepsy (PDE) due to deficient a-aminoadipic-δ- semialdehyde (α-AASA) dehydrogenase activity due to mutations in ALDH7A1 , resulting in the accumulation of Δ 1 -Ρ6C, P6CH, and 6-Oxo-PIP in biological samples.. |
priorityDate |
2018-02-19-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type |
http://data.epo.org/linked-data/def/patent/Publication |