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3.1.5 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by pathogenic variants in the nuclear TYMP gene encoding the thymidine phosphorylase enzyme (Nishino et al., 2000)
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All samples were prepared in triplicate and analysed by LC-MS/MS
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