Search Results - "Katsanika, Irene"
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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
Published in JIMD reports (01-07-2021)“…Mutations in the FOLR1 gene, encoding for the folate alpha receptor (FRa), represent a rare recessive genetic cause of cerebral folate deficiency (CFD), a…”
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Valproate effect on ketosis in children under ketogenic diet
Published in European journal of paediatric neurology (01-07-2016)“…Abstract Introduction Although ketogenic diet has been proven useful in the management of intractable seizures, interactions with other medicines have been…”
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Journal Article -
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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
Published in JIMD reports (01-07-2021)“…Mutations in the FOLR1 gene, encoding for the folate alpha receptor (FRa), represent a rare recessive genetic cause of cerebral folate deficiency (CFD), a…”
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