@article{defa76da1f65466bb2c67097e4847101,
title = "Infusion of platelets transiently reduces nucleoside overload in MNGIE",
abstract = "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 transfer might be therapeutic.",
author = "Lara, \{M. C.\} and B. Weiss and I. Illa and P. Madoz and L. Massuet and Andreu, \{A. L.\} and Valentino, \{M. L.\} and Y. Anikster and M. Hirano and R. Mart{\'i}",
note = "Funding Information: This work was supported by grants from the United Mitochondrial Disease Foundation (04-42), the Spanish Fondo de Investigaci{\'o}n Sanitaria (PI 03/0343 and CP 04/0242), NIH Grant P01NS11766, Muscular Dystrophy Association, and the Marriott Mitochondrial Disorder Clinical Research Fund. ",
year = "2006",
month = oct,
doi = "10.1212/01.wnl.0000239824.95411.52",
language = "אנגלית",
volume = "67",
pages = "1461--1463",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "8",
}