Infusion of platelets transiently reduces nucleoside overload in MNGIE.
Neurology
; 67(8): 1461-3, 2006 Oct 24.
Article
em En
| MEDLINE
| ID: mdl-16971699
ABSTRACT
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by thymidine phosphorylase (TP) deficiency, which leads to toxic accumulations of thymidine (dThd) and deoxyuridine (dUrd). In this work, we report that infusion of platelets from healthy donors to patients with MNGIE restored transiently circulating TP and reduced plasma dThd and dUrd levels, suggesting that treatments to achieve permanent restoration of circulating TP such as allogeneic stem cell transplantation or gene transfer might be therapeutic.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Timidina
/
Timidina Fosforilase
/
Encefalomiopatias Mitocondriais
/
Transfusão de Plaquetas
/
Desoxiuridina
/
Gastroenteropatias
/
Doenças do Sistema Nervoso
Limite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Neurology
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Espanha