P179: A multicenter descriptive study of 176 neonatal-onset urea cycle disorder patients hospitalized in Level IV neonatal intensive care units
The neonatal presentation of urea cycle disorders (UCDs) is nonspecific and often one of extremis. These disorders are collectively rare and even less common when stratified by individual named disorders. Sizeable investigations of UCDs are uncommon, most studies detail single case reports or small case series with a focus on general presentation, survival rates, ongoing pharmacologic interventions, and long-term neurodevelopmental outcomes. Comprehensive reports of the neonatal intensive care unit (NICU) course, including presentation, interventions, and outcomes, remain unpublished.
Authors
- Ellen Bendel‐Stenzel (ORCID: https://orcid.org/0000-0001-5367-3039)
- Karna Murthy (ORCID: https://orcid.org/0000-0003-3363-9663)
- Isabella Zaniletti (ORCID: https://orcid.org/0000-0003-1234-3468)
- Kevin Tan (ORCID: https://orcid.org/0000-0001-5894-8839)
- Whitney Thompson
- Michael Padula (ORCID: https://orcid.org/0000-0003-2050-5930)
- Kristen Suhrie (ORCID: https://orcid.org/0000-0003-2572-936X)
- Theresa R. Grover (ORCID: https://orcid.org/0000-0002-8723-2546)
Institutions
- WinnMed (US)
- Riley Hospital for Children (US)
- Children's Hospital Colorado (US)
- Lurie Children's Hospital (US)
- Ten Chen Hospital (TW)
- Science History Institute (US)
- University of Colorado Denver (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102144
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00