Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report

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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 (P2-8.003)2024
2. 2Stroke-like lesion and status epilepticus in a child with NARS2-related combined oxidative phosphorylation deficiency 242025
3. 3Hyperkinetic Movement Disorder in KARS1-Related Disease: An Illustrative Video-Recorded Case and Narrative Literature Review2025
4. 4Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy: QARS1 new variants associated with a severe phenotype in a patient2024 · 1 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