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...

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Detalles Bibliográficos
Autores principales: Zhang, Ciliu, Deng, Xiaolu, Wen, Yafei, He, Fang, Yin, Fei, Peng, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
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

Internet

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

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