Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Autor: Halter, J. P, Michael, W, Schüpbach, M, Mandel, H, Casali, C, Orchard, K, Collin, M, Valcarcel, D, Rovelli, A, Filosto, M, Dotti, M. T, Marotta, G, Pintos, G, Barba, P, Accarino, A, Ferra, C, Illa, I, Beguin, Y, Bakker, J. A, Boelens, J. J, De Coo, I. F. M, Fay, K, Sue, C. M, Nachbaur, D, Zoller, H, Sobreira, C, Pinto Simoes, B, Hammans, S. R, Savage, D, Martí, R, Chinnery, P. F, Elhasid, R, Gratwohl, A, Hirano, M, Barros Navarro, G, Benoist, J. F, Bierau, J, Bucalossi, A, Carluccio, M. A, Coll-Canti, J, Cotelli, M. S, Diesch, T, Di Fabio, R, Donati, M. A, Garvin, J. H, Hill, K, Kappeler, L, Ku Hne, T, Lara, M. C, Lenoci, M, Lucchini, G, Marques, W. Jr, Mattle, H. P, Meyer, A, Parini, R, Passweg, J. R, Pieroni, F, Rodriguez-Palmero, A, Santus, F, Scarpelli, M, Schlesser, P, Sicurelli, F, Stern, M, Stracieri, A. B, Tonin, P, Torres-Torronteras, J, Voltarelli, J. C, Zaidman, I.

Publikováno v: Brain, 138, 2847. Oxford University Press
Halter, Joerg P; Schüpbach, Michael; Mandel, Hanna; Casali, Carlo; Orchard, Kim; Collin, Matthew; Valcarcel, David; Rovelli, Attilio; Filosto, Massimiliano; Dotti, Maria T; Marotta, Giuseppe; Pintos, Guillem; Barba, Pere; Accarino, Anna; Ferra, Christelle; Illa, Isabel; Beguin, Yves; Bakker, Jaap A; Boelens, Jaap J; de Coo, Irenaeus F M; ... (2015). Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy. Brain, 138(10), pp. 2847-2858. Oxford University Press 10.1093/brain/awv226
BRAIN
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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Brain, 138, 2847-2858. Oxford University Press
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Brain, 138, 2847-2858

Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that result in thymidine phosphorylase deficiency. We co

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https://dspace.library.uu.nl/handle/1874/332591