Associated Papers
Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India.
Gowda VK et al.
Brain & Development, 2025
Case Report: Cerebral folate deficiency caused by FOLR1 variant.
Wang Q et al.
Frontiers in Pediatrics, 2024
39328591 (PubMed )
Supplement: Table1.pdf
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.
Potic A et al.
Orphanet Journal of Rare Diseases, 2023
Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.
Susgun S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.
Brunetti S et al.
American Journal of Medical Genetics. Part A, 2021
Cerebral folate deficiency: Analytical tests and differential diagnosis.
Pope S et al.
Journal of Inherited Metabolic Disease, 2019
Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation.
Delmelle F et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
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