The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Jul. 02, 2024
Filed:
Feb. 19, 2019
Applicant:
The Regents of the University of Colorado, Denver, CO (US);
Inventors:
Michael F. Wempe, Aurora, CO (US);
Johan L. Van Hove, Castle Rock, CO (US);
Curtis Coughlin, II, Denver, CO (US);
Assignee:
THE REGENTS OF THE UNIVERSITY OF COLORADO, A BODY CORPORATE, Denver, CO (US);
Attorney:
Primary Examiner:
Int. Cl.
CPC ...
G01N 30/72 (2006.01); G01N 30/02 (2006.01);
U.S. Cl.
CPC ...
G01N 30/7233 (2013.01); G01N 2030/027 (2013.01); G01N 2560/00 (2013.01); G01N 2800/2857 (2013.01);
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-P6C, P6CH, and 6-Oxo-PIP in biological samples.