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HIRANO, M; MARTI, R; SCHWARTZ, J; HAWKS, R. G; MARTONE, D. L; CAIRO, M. S; DIMAURO, S; STANZANI, M; GARVIN, J. H; SAVAGE, D. G; CASALI, C; TADESSE, S; ULDRICK, T; FINE, B; ESCOLAR, D. M; VALENTINE, M. L; NISHINO, I; HESDORFFER, C
Neurology, 10/2006, Volume: 67, Issue: 8Journal Article
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a multisystemic autosomal recessive disease due to primary thymidine phosphorylase (TP) deficiency. To restore TP activity, we performed reduced intensity allogeneic stem cell transplantations (alloSCTs) in two patients. In the first, alloSCT failed to engraft, but the second achieved mixed donor chimerism, which partially restored buffy coat TP activity and lowered plasma nucleosides. Thus, alloSCT can correct biochemical abnormalities in the blood of patients with MNGIE, but clinical efficacy remains unproven.
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