Expanded Clinical Phenotype and Untargeted Metabolomics Analysis in RARS2-related Mitochondrial Disorder (P2-8.003)

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report2024 · 8 citations
2. 2Stroke-like lesion and status epilepticus in a child with NARS2-related combined oxidative phosphorylation deficiency 242025
3. 3Antenatal Presentation of <scp>MRPS22</scp> ‐Related Mitochondrial Disease Confirmed With Rapid Proteomics2026
4. 4Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases <i>WARS2</i>, <i>NARS2</i>, and <i>RARS2</i> genes associated with mitochondrial diseases2024 · 6 citations
5. 5Case Report: A novel RRM2B variant in a Chinese infant with mitochondrial DNA depletion syndrome and collective analyses of RRM2B variants for disease etiology2024