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    A novel thymidine phosphorylase mutation in a Chinese MNGIE patient

    Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder associated with mitochondrial alterations. MNGIE is characterized by severe gastrointestinal dysmotility, cachex...

    Hui-Fang Wang, Juan Wang, Yan-Ling Wang, Jian-Jian Fan… in Acta Neurologica Belgica (2017)