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...
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| Автори: | , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
BMC
2020-11-01
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| Серія: | BMC Medical Genetics |
| Предмети: | |
| Онлайн доступ: | http://link.springer.com/article/10.1186/s12881-020-01162-3 |
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