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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| Main Authors: | , , , , , |
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| Format: | Book |
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BMC,
2020-11-01T00:00:00Z.
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Internet
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |