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Distinctive gastrointestinal motor dysfunction in patients with MNGIE.
Alcalá-González LG, Accarino A, Martí R, Sánchez-Tejerina D, Llauradó A, Azpiroz F, Malagelada C. Alcalá-González LG, et al. Among authors: marti r. Neurogastroenterol Motil. 2023 Oct;35(10):e14643. doi: 10.1111/nmo.14643. Epub 2023 Jul 13. Neurogastroenterol Motil. 2023. PMID: 37448106
Phenotypic variability in a Spanish family with MNGIE.
Gamez J, Ferreiro C, Accarino ML, Guarner L, Tadesse S, Martí RA, Andreu AL, Raguer N, Cervera C, Hirano M. Gamez J, et al. Among authors: marti ra. Neurology. 2002 Aug 13;59(3):455-7. doi: 10.1212/wnl.59.3.455. Neurology. 2002. PMID: 12177387
A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.
Gamez J, Lara MC, Mearin F, Oliveras-Ley C, Raguer N, Olive M, Leist AT, Perello A, Perona M, Cervera C, Andreu AL, Martí R, Hirano M. Gamez J, et al. Among authors: marti r. J Neurol Sci. 2005 Jan 15;228(1):35-9. doi: 10.1016/j.jns.2004.09.034. Epub 2004 Nov 12. J Neurol Sci. 2005. PMID: 15607208
Infusion of platelets transiently reduces nucleoside overload in MNGIE.
Lara MC, Weiss B, Illa I, Madoz P, Massuet L, Andreu AL, Valentino ML, Anikster Y, Hirano M, Martí R. Lara MC, et al. Among authors: marti r. Neurology. 2006 Oct 24;67(8):1461-3. doi: 10.1212/01.wnl.0000239824.95411.52. Epub 2006 Sep 13. Neurology. 2006. PMID: 16971699
Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach.
Halter J, Schüpbach W, Casali C, Elhasid R, Fay K, Hammans S, Illa I, Kappeler L, Krähenbühl S, Lehmann T, Mandel H, Marti R, Mattle H, Orchard K, Savage D, Sue CM, Valcarcel D, Gratwohl A, Hirano M. Halter J, et al. Among authors: marti r. Bone Marrow Transplant. 2011 Mar;46(3):330-337. doi: 10.1038/bmt.2010.100. Epub 2010 May 3. Bone Marrow Transplant. 2011. PMID: 20436523 Free PMC article.
677 results