First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient
Abstract 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 enco...
Uloženo v:
| Hlavní autoři: | , , , , , |
|---|---|
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BMC
2020-11-01
|
| Edice: | BMC Medical Genetics |
| Témata: | |
| On-line přístup: | http://link.springer.com/article/10.1186/s12881-020-01162-3 |
| Tagy: |
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!
|