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Kygevvi (doxecitine and doxribtimine) for thymidine kinase 2 deficiency: a turning point for an ultra-rare mitochondrial disorder

Abstract Purpose Thymidine kinase 2 deficiency (TK2d) is an ultra-rare, autosomal recessive mitochondrial deoxyribonucleic acid (DNA) depletion syndrome. It causes progressive muscle weakness, respiratory failure, and carries high early mortality. Until recently, management was limited to supportive...

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Wedi'i Gadw mewn:
Prif Awduron: Nwamaka Chidera Bob-Ume, Esther Oluwafunmilayo Omotoso, Chizoba Sandra Bob-Ume, JohnPaul Steve Akpabio, Stella Steve Akpabio, Kosisochukwu Chinenye Bob-Ume, Ebelechukwu Isioma Bob-Ume, PraiseGod Monday Ebenezer, Joseph Uso Lot, Precious Nmesomachi Orji, Bernard Dominic Okon, Rita Chinecherem Amaugo, Ediomo Joseph Bright, Abdulhakeem Abdulsalam Oladipupo
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer 2026-06-01
Cyfres:Journal of Rare Diseases
Pynciau:
Thymidine kinase 2 deficiency
TK2d
Kygevvi
Doxecitine
Doxribtimine
Mitochondrial DNA depletion syndrome
Mynediad Ar-lein:https://doi.org/10.1007/s44162-026-00209-y
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