Associated Papers
Investigating the safety and efficacy of deoxycytidine/deoxythymidine in mitochondrial DNA depletion disorders: phase 2 open-label trial.
Berrahmoune S et al.
Journal of Neurology, 2025
Case Report: A novel RRM2B variant in a Chinese infant with mitochondrial DNA depletion syndrome and collective analyses of RRM2B variants for disease etiology.
Wang Y et al.
Frontiers in Pediatrics, 2024
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Keshavan N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Reid ES et al.
Brain : a Journal of Neurology, 2016
27604308 (PubMed )
Supplement: aww221_supplementary_data.zip › brain-2016-00692-File005.pdf
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