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Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation
- Source :
- European Journal of Paediatric Neurology, Vol. 20, no.5, p. 709-713 (2016)
- Publication Year :
- 2016
- Publisher :
- Elsevier Ltd, 2016.
-
Abstract
- Background : Cerebral folate transporter deficiency caused by FOLR-1 mutations has been described in 2009. This condition is characterized by a 5MTHF level
- Subjects :
- 0301 basic medicine
medicine.medical_specialty
Leucovorin
Neuroaxonal Dystrophies
610 Medicine & health
medicine.disease_cause
Gastroenterology
03 medical and health sciences
Folinic acid
Epilepsy
0302 clinical medicine
Cerebrospinal fluid
Internal medicine
medicine
Humans
Folate Receptor 1
2735 Pediatrics, Perinatology and Child Health
Child
Infusions, Intravenous
Treatable disorder
Tetrahydrofolates
Neurological regression
Mutation
business.industry
Siblings
Transporter
General Medicine
Inborn error of metabolism
medicine.disease
Surgery
2728 Neurology (clinical)
030104 developmental biology
10036 Medical Clinic
Folate receptor
Child, Preschool
Pediatrics, Perinatology and Child Health
Cerebral folate deficiency
Female
Neurology (clinical)
Folate receptor 1
business
Hypomyelination
030217 neurology & neurosurgery
medicine.drug
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- European Journal of Paediatric Neurology, Vol. 20, no.5, p. 709-713 (2016)
- Accession number :
- edsair.doi.dedup.....fb167cc0da0487f959acd93d8e61faad