Search Results - "Tirothoulaki, Katerina"

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 by Papadopoulou, Maria T., Dalpa, Efterpi, Portokalas, Michalis, Katsanika, Irene, Tirothoulaki, Katerina, Spilioti, Martha, Gerou, Spyros, Plecko, Barbara, Evangeliou, Athanasios E.

“…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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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 by Papadopoulou, Maria T, Dalpa, Efterpi, Portokalas, Michalis, Katsanika, Irene, Tirothoulaki, Katerina, Spilioti, Martha, Gerou, Spyros, Plecko, Barbara, Evangeliou, Athanasios E

“…Mutations in the FOLR1 gene, encoding for the folate alpha receptor (FRa), represent a rare recessive genetic cause of cerebral folate deficiency (CFD), a…”
Get full text