Výsledky vyhledávání - "Michalis Portokalas"

Akademický článek

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

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

Publikováno v: JIMD Reports, Vol 60, Iss 1, Pp 3-9 (2021)

Abstract Mutations in the FOLR1 gene, encoding for the folate alpha receptor (FRa), represent a rare recessive genetic cause of cerebral folate deficiency (CFD), a potentially reversible neurometabolic condition. Patients typically present with devel

Externí odkaz: https://doaj.org/article/befcd840d36a45b8806cbf9daad17f2b

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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

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

Publikováno v: JIMD Reports
JIMD Reports, Vol 60, Iss 1, Pp 3-9 (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 potentially reversible neurometabolic condition. Patients typically present with developmental

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0858cfaa785c010ec8a03095251eea62
https://doi.org/10.1002/jmd2.12206

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