ArticleFrontiers in pediatrics2024
Case Report: Cerebral folate deficiency caused by
Article in Frontiers in pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed.
- Endoscopic corpus callosotomy for drug-resistant epilepsy due to cerebral folate transporter deficiency: illustrative case.Journal of neurosurgery. Case lessons · 2026Article
- Folate in autism neurodevelopment.Frontiers in nutrition · 2026Review
- A Case of Cerebral Folate Deficiency due to FOLR1 Mutation in a 10-Year-Old Girl: Clinical Presentation and Treatment Outcomes.Clinical case reports · 2025Article
- Vitamins, Vascular Health and Disease.Nutrients · 2025Review
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Cerebral folate transport deficiency (CFD) is a rare neurological disease characterized by a deficiency in 5-methyltetrahydrofolate (5-MTHF) in the cerebrospinal fluid, with a normal peripheral total folate level. Late infantile-onset refractory seizures, ataxia, movement disorders, hypotonia, developmental delays, and developmental regression characterize CFD. Some patients present with visual and hearing impairments and autism-like manifestations. This study aimed to elucidate the clinical features, diagnostic approach, and therapeutic outcomes in siblings with CFD due to Case presentation: We reported the cases of two siblings with CFD caused by a new variant in Conclusions: This report illustrates that CFD was caused by
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