Successful Treatment of Cerebral Folate Transporter Deficiency With Intravenous Folinic Acid
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health
Reference5 articles.
1. Treatable genetic metabolic epilepsies;Assi;Curr Treat Options Neurol,2017
2. 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;Am J Med Genet A,2021
3. Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency;Grapp;Brain,2012
4. Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation;Delmelle;Eur J Paediatr Neurol,2016
5. Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency;Kobayashi;Brain Dev,2017
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