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- W2158772803 abstract "In infantile-onset cerebral folate deficiency, 5-methyltetrahydrofolate (5MTHF) levels in the cerebrospinal fluid are low, but folate levels in the serum and erythrocytes are normal. We examined serum specimens from 28 children with cerebral folate deficiency, 5 of their mothers, 28 age-matched control subjects, and 41 patients with an unrelated neurologic disorder. Serum from 25 of the 28 patients and 0 of 28 control subjects contained high-affinity blocking autoantibodies against membrane-bound folate receptors that are present on the choroid plexus. Oral folinic acid normalized 5MTHF levels in the cerebrospinal fluid and led to clinical improvement. Cerebral folate deficiency is a disorder in which autoantibodies can prevent the transfer of folate from the plasma to the cerebrospinal fluid." @default.
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- W2158772803 date "2005-05-12" @default.
- W2158772803 modified "2023-10-17" @default.
- W2158772803 title "Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome" @default.
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- W2158772803 doi "https://doi.org/10.1056/nejmoa043160" @default.
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