Nandaki Keshavan1, Shamima Rahman1

  • 1Department of Metabolic Medicine, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, United Kingdom; UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom.

概括

脱氧氨酸激酶缺乏导致严重的mtDNA枯竭综合征,预后不佳,特别是在婴儿中. 早期发病表明死亡率增加,突出显示了干预的关键窗口.