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

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 delay, seizures, abnormal movements, and delayed m...

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Dades bibliogràfiques
Publicat a:JIMD Rep
Autors principals: Papadopoulou, Maria T., Dalpa, Efterpi, Portokalas, Michalis, Katsanika, Irene, Tirothoulaki, Katerina, Spilioti, Martha, Gerou, Spyros, Plecko, Barbara, Evangeliou, Athanasios E.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley & Sons, Inc. 2021
Matèries:
Case Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8260484/
https://ncbi.nlm.nih.gov/pubmed/34258135
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12206
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