Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature

BACKGROUND: Neurodegeneration due to cerebral folate transport deficiency is a rare autosomal recessive disorder caused by biallelic pathogenic variants in FOLR1. Onset typically occurs in late infancy and is characterized by psychomotor regression, epilepsy, and a hypomyelinating leukodystrophy on...

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Detalles Bibliográficos
Autores principales: Potic, Ana, Perrier, Stefanie, Radovic, Tijana, Gavrilovic, Svetlana, Ostojic, Jelena, Tran, Luan T., Thiffault, Isabelle, Pastinen, Tomi, Schiffmann, Raphael, Bernard, Geneviève
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10339608/
https://www.ncbi.nlm.nih.gov/pubmed/37443037
http://dx.doi.org/10.1186/s13023-023-02802-6

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