Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings

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The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.

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Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings

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2015 nî lūn-bûn

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2015年論文

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2015年論文

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Late diagnosis of cerebral fol ...... folinic acid in adult siblings

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Late diagnosis of cerebral fol ...... folinic acid in adult siblings

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Late diagnosis of cerebral fol ...... folinic acid in adult siblings

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Late diagnosis of cerebral fol ...... folinic acid in adult siblings

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Late diagnosis of cerebral fol ...... folinic acid in adult siblings

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Late diagnosis of cerebral fol ...... folinic acid in adult siblings

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David A Dyment

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Jorge Davila

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Patrick Ferreira

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Sarah L Sawyer

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Stephanie M Luco

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P2860

Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency.

Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.

Diagnosis and management of cerebral folate deficiency. A form of folinic acid-responsive seizures.

The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource.

Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic acid substitution.

Cerebral folate deficiency: life-changing supplementation with folinic acid.

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

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scholarly article

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10.1212/NXG.0000000000000038

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Kym M Boycott

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2015-12-22T00:00:00Z

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27066576

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sibling

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Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings

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P2860

P2860

Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings

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P1476

P2093

P2860

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