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Furthermore, MTHFR knockout mice showed a decrease in methionine level, methionine/homocysteine ratio, dimethylglycine level, and lipid deposition in proximal aorta along with changes in cerebellar pathology, reduced cerebellum, reduced cerebral cortex, and developmental issues ( In conclusion, we identified a novel biallelic non-sense mutation in a single affected individual suffering from severe MTHFR deficiency

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