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Emma struggled from day one: Poor feeder, irritable, failed to gain weight At 4 months, switched to cow's milk formula (fortified with folic acid) By 6 months: severe developmental delays, abnormal muscle tone MRI showed white matter abnormalities Diagnosis: Cerebral Folate Deficiency (genetic testing was normal) Standard Treatment: Started on Leucovorin 5 mg daily

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295 SETDB1 has been shown to influence embryological development by promoting the maintenance of pluripotency and suppressing the differentiation of embryonic SCs, 296 and therefore, is required for nervous system development and function while dysregulation of SETDB1 is implicated in the pathogenesis of CNS disorders including ASD

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Widmer, G., Orbacz, E.A