Title : Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches.

Pub. Date : 2007 Jun

PMID : 17549623






1 Functional Relationships(s)
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1 It has been established that MNGIE is caused by mutations in the gene encoding thymidine phosphorylase (TP), which lead to absolute or nearly complete loss of its catalytic activity, producing systemic accumulations of its substrates, thymidine (dThd) and deoxyuridine (dUrd). Thymidine thymidine phosphorylase Homo sapiens