N-acetylglutamate synthetase deficiency
- Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency
- NAGS deficiency
- NAG synthetase deficiency
- N-acetyl glutamate synthetase deficiency
- Hyperammonemia due to N-acetylglutamate synthase deficiency
News & Events
ORDR Co-Sponsored Conferences
2016 Rare Disease Day at NIH, Monday, February 29, 2016
Location: Building 10, Masur Auditorium, National Institutes of Health, Bethesda, MD
Description: The 2016 Rare Disease Day at NIH will take place on February 29. The event, sponsored by NCATS and the NIH Clinical Center, aims to raise awareness about rare diseases, the patients they affect and the research collaborations that are addressing rare disease challenges. The day will feature tours, posters and exhibits, and presentations.
The Urea Cycle Disorders Satellite Symposium to the 11th International Congress on Inborn Errors of Metabolism (ICIEM) – Overcoming Barriers – New Developments and Future Directions for Urea Cycle Disorders, Thursday, August 27, 2009 - Saturday, August 29, 2009
Location: Estancia La Jolla Hotel Conference Center, La Jolla, CA
Description: The specific aims of this meeting were to (1) focus attention on advances that may provide a basis for new interventions to treat UCDs and address the long-term effects of the disorders; (2) review progress and discuss new findings in the role of urea cycle defects, precursors, and intermediaries and their impact on non-urea cycle reactions, e.g., blood pressure and liver disease; and (3) share preliminary data from the investigations of the Urea Cycle Disorders Consortium and encourage collaborations that expand patient access and participation in clinical trials.
- Reaching for a Cure: 2011 NUCDF Annual Conference, July 8 2011 - July 10, 2011
Location: Sheraton Denver Downtown, Denver, Colorado
Description: This conference offers the unique opportunity to meet other UCD families, stay informed, and learn about new advances in research, treatment and management to improve the lives of children and adults with UCD. Working together, our NUCDF families and community of committed researchers and medical professionals are making a major impact with advances in the understanding of UCDs, accelerating research, and improved outcomes in children and adults with UCD. In the past four years, research for UCDs has increased by 400%! Let's continue the momentum and end the devastating effects of UCD.