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Artigo Acesso aberto Revisado por pares
BIBTEX RIS

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

2006; Lippincott Williams & Wilkins; Volume: 67; Issue: 8 Linguagem: Inglês

10.1212/01.wnl.0000240853.97716.24

ISSN

1526-632X

Autores

Michio Hirano, Ramón Martí, Carlo Casali, S. Tadesse, TS Uldrick, Brian Fine, Diana M. Escolar, Maria Lucia Valentino, Ichizo Nishino, Charles Hesdorffer, Joseph E. Schwartz, R. Hawks, Daniel Martone, Mitchell S. Cairo, S. DiMauro, Marta Stanzani, James H. Garvin, David G. Savage,

Tópico(s)

Metabolism and Genetic Disorders

Resumo

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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