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Several conditions may disrupt metabolic signaling

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doi: 10.1016/j.jaut.2017.06.001 133 MoltchanovaEVSchreierNLammiNKarvonenM

Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of FOLR1 gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet

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After initial repletion, a maintenance dose is given, often 1,000 mcg intramuscularly every month or every 2 to 3 months, to prevent recurrence of deficiency
