Successful Treatment of Cerebral Folate Transporter Deficiency With Intravenous Folinic Acid
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Date
Authors
Jaafar, Fatima
Obeid, Makram
Journal Title
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Publisher
Elsevier Inc.
Abstract
Description
Keywords
Cerebral folate transporter deficiency, Developmental regression, Epilepsy, Folinic acid, Refractory seizures, Folate receptor 1, Folic acid, Humans, Leucovorin, Neuroaxonal dystrophies, 5 methyltetrahydrofolic acid, Folate transporter, Article, Ataxic gait, Brain development, Case report, Child, Clinical article, Consanguineous marriage, Electroencephalography, Female, Folr1 gene, Gene, Gene mutation, Genetic screening, Hand movement, Human, Metabolic disorder, Neuroimaging, Neurologic disease, Nuclear magnetic resonance imaging, Preschool child, Tonic seizure, Treatment response, White matter lesion, Neuroaxonal dystrophy