Invention Grant
- Patent Title: 6-oxo-pipecolic acid quantitation by mass spectrometry
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Application No.: US16971103Application Date: 2019-02-19
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Publication No.: US12025596B2Publication Date: 2024-07-02
- Inventor: Michael F. Wempe , Johan L. Van Hove , Curtis Coughlin, II
- Applicant: THE REGENTS OF THE UNIVERSITY OF COLORADO
- Applicant Address: US CO Denver
- Assignee: THE REGENTS OF THE UNIVERSITY OF COLORADO, A BODY CORPORATE
- Current Assignee: THE REGENTS OF THE UNIVERSITY OF COLORADO, A BODY CORPORATE
- Current Assignee Address: US CO Denver
- Agency: Dorsey & Whitney LLP
- International Application: PCT/US2019/018570 2019.02.19
- International Announcement: WO2019/161383A 2019.08.22
- Date entered country: 2020-08-19
- Main IPC: G01N30/72
- IPC: G01N30/72 ; G01N30/02
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 Δ1-P6C, P6CH, and 6-Oxo-PIP in biological samples.
Public/Granted literature
- US20220057371A1 6-OXO-PIPECOLIC ACID QUANTITATION BY MASS SPECTROMETRY Public/Granted day:2022-02-24
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