P065: Canonical splice variant c.298+2T>C in OTC associated with attenuated ornithine transcarbamylase deficiency
To date, he has not experienced a metabolic decompensation, and he continues to tolerate increases in daily protein allowance. His mother has been well throughout her life, with the exception of migraines associated with excess protein intake.
Authors
- Mary Kate LoPiccolo
- Yu Leng Phua (ORCID: https://orcid.org/0000-0002-3428-8669)
- Janhawi Kelkar
- Chunli Yu
- Colleen Donnelly (ORCID: https://orcid.org/0000-0002-6911-9427)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102909
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00