P285: Diagnostic utility of exome sequencing in patients with suspected mitochondrial disease: A single-center experience
Conclusion:These findings demonstrate that a prolonged release medical formula administered as the final daily protein source may improve metabolic control during the night, helping the most challenging group of patients with PKU to have improved morning Phe and Tyr control.
Authors
- Young‐Mock Lee (ORCID: https://orcid.org/0000-0002-5838-249X)
- Hyun Joo Lee (ORCID: https://orcid.org/0000-0002-1432-0449)
Institutions
- Yonsei University (KR)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102250
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00