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First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient
BACKGROUND: Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). The primary causes of CFD include the presence of folate receptor (FR) autoantibodies, defects of FR encoding gen...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7691102/ https://www.ncbi.nlm.nih.gov/pubmed/33243190 http://dx.doi.org/10.1186/s12881-020-01162-3 |