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In order to determine whether the metabolic changes observed in Tbx1 +/ mice were related to the vB12 pathway, we applied NMR-based metabolomic analysis to the four classes (treatments and genotypes), that is, PBS-treated WT and Tbx1 +/ mice and vB12-treated WT and Tbx1 +/ mice

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They observed a rapid and substantial increase in ascorbate levels in the liver of mice

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In 10/20 individuals muscle involvement (cardiomyopathy, muscle weakness, exercise intolerance, ptosis) was reported, 7/20 were described having tonus dysregulation, and for 5/20 cases movement disorder(s) (ataxia, dystonia) were reported

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