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Cario, H; Smith, D E C; Blom, H; Blau, N; Bode, H; Holzmann, K; Pannicke, U; Hopfner, K P; Rump, E M; Ayric, Z; Kohne, E; Debatin, K M; Smulders, Y; Schwarz, K (2011). Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease. American Journal of Human Genetics, 88(2):226-231.