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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
instname
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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::622b286198db315b48ed87569b5cafb2
https://dspace.library.uu.nl/handle/1874/332591

Randomised controlled trial of methotrexate for chronic inflammatory demyelinating polyradiculoneuropathy (RMC trial): a pilot, multicentre study

Autor: Mahdi Rogers, M, Rutterford, C, Hughes, Ra, Léger, Jm, Nobile Orazio, E, Van den Bergh, P, van Doorn, P, van Schaik IN, Hadden, Rd, Choy, E, Reilly, M, Winer, J, Evers, E, van Doorn PA, Créange, A, Gueguen, A, Uzenot, D, Behin, A, Nicolas, G, Pautot, V, Uncini, A, Manzoli, C, Lauria, G, Pareyson, D, Casellato, C, Sabatelli, M, Conte, A, Luigetti, M, Briani, Chiara, Lucchetta, Marta, Schenone, A, Benedetti, L, Fiorina, E, Brusse, E, van der Kooi AJ, Guiloff, Rj, Rakowicz, Wp, Lecky, Br, Dougan, Cf, Marshall, D, Davies, N, Busby, M, Lansbury, A, Overell, J, Willison, Hj, Rajabally, Ya, Kendall, B, Gow, D, Nixon, J, Kulkarni, O, Katifi, H, Hammans, S, Gibson, A, Mcdermott, C, Cornblath, Dr, Chaudry, V.

Publikováno v: Lancet neurology, 8(2), 158-164. Lancet Publishing Group

BACKGROUND: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) responds to treatment with corticosteroids, intravenous immunoglobulin, and plasma exchange. We aimed to test whether the standard immunosuppressive drug methotrexate was of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff35e4296392f6c2f2bd029448c281bf
http://hdl.handle.net/11577/2533796

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