Associated Papers
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
Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency.
Ortigoza Escobar JD et al.
Seminars in Pediatric Neurology, 2016
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
Ohba C et al.
Neurogenetics, 2013
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