Infusion of platelets transiently reduces nucleoside overload in MNGIE.

  title={Infusion of platelets transiently reduces nucleoside overload in MNGIE.},
  author={Mari C Lara and Benny Weiss and Isabel Illa and Pedro J Madoz and Llu{\'i}s Massuet and Antonio Luis Andreu and M L Valentino and Yair Anikster and M Hirano and Ramon Mart{\'i}},
  volume={67 8},
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by thymidine phosphorylase (TP) deficiency, which leads to toxic accumulations of thymidine (dThd) and deoxyuridine (dUrd). In this work, we report that infusion of platelets from healthy donors to patients with MNGIE restored transiently circulating TP and reduced plasma dThd and dUrd levels, suggesting that treatments to achieve permanent restoration of circulating TP such as allogeneic stem cell transplantation or gene… CONTINUE READING
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