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Book Chapters Sullivan, TJ, Whitehead, K, Williamson, R, Grimes, D, Schlect, D, Brown, I, Dickie, G, Bhatia, S, Paulino, AC, Buatti, JM, Mayr, NA, Wen, BC, Pinnix, CC, Dabaja, BS, Milgrom, SA, Smith, GL, Abou, Z, Nastoupil, L, Romaguera, JE, Turturro, F, Fowler, N, Fayad, LE, Westin, JR, Neelapu, SS, Fanale, MA, Rodriguez, MA, Hagemeister, FB, Lee, HJ, Oki, Y, Wang, L , Samaniego, F, Chi, L, Esmaeli, B

Life Stage_Infant

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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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