The impact of TK2 deficiency syndrome and its treatment by nucleoside therapy on quality of life

•TK2d has significant negative impacts on most areas of life and function.•Physical domains are the most common domains affected by TK2d.•Most treated patients improved in overall condition as compared to 1 year ago.•All (100%) participants would recommend nucleoside therapy.•Nucleosides may meaning...

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Veröffentlicht in:Mitochondrion 2023-01, Vol.68, p.1-9
Hauptverfasser: Amtmann, Dagmar, Gammaitoni, Arnold R., Galer, Bradley S., Salem, Rana, Jensen, Mark P.
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Sprache:eng
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