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filingDate 2019-02-19-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_5487e82c40e478b649eaba8b2120f13b
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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..
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Total number of triples: 579.