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Papadopoulou MT, Dalpa E, Portokalas M, Katsanika I, Tirothoulaki K, Spilioti M, Gerou S, Plecko B, Evangeliou AE (2021) 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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