Pyrimidine Nucleos(t)ide Therapy in Patients With Thymidine Kinase 2 Deficiency
This study provides Class III evidence for a reduction in the risk of death in patients with TK2d treated with pyrimidine nucleos(t)ides.
Authors
- Susan VanMeter
- Cristina Domínguez‐González (ORCID: https://orcid.org/0000-0001-5151-988X)
- Carl Chiang
- Michio Hirano (ORCID: https://orcid.org/0000-0002-7070-7402)
- Anny‐Odile Colson
- Irene Rebollo Mesa (ORCID: https://orcid.org/0009-0004-0635-2485)
- Joanne Quan
Institutions
- Columbia University Irving Medical Center (US)
- North Carolina Institute of Medicine (US)
- Research Institute Hospital 12 de Octubre (ES)
- UCB Pharma (Spain) (ES)
- Hospital Universitario 12 De Octubre (ES)
- UCB Pharma (France) (FR)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Modulation Therapeutics (United States) (US)
- Spectrum Pharmaceuticals (United States) (US)
- Evgen Pharma (United Kingdom) (GB)
Publication Details
- Journal
- Neurology
- Published
- 2025-09-05
- DOI
- https://doi.org/10.1212/wnl.0000000000213908
- Citations
- 4
- Primary Topic
- Biochemical and Molecular Research
- Type
- article
- Field-Weighted Citation Impact
- 3.22