| CFD | Cerebral folate transporter deficiency |
| FRα | Folate receptor alpha |
| 5MTHF | 5-methyltetrahydrofolate |
| PCFT | Proton-coupled folate transporter |
| RFC | Reduced folate carrier |
| FRβ | Folate receptor β |
| CSF | Cerebrospinal fluid |
| MCV | Mean corpuscular volume |
| EMG | Electromyography |
| EEG | Electroencephalography |
| MRI | Magnetic resonance imaging |
| DTR | Deep tendon reflex |
| WES | Whole-exome sequencing |
| CES | Clinical-exome sequencing |
| VNS | Vagus nerve stimulation |
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