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Article

Cerebral folate deficiency.

Journal of inherited metabolic disease - 1 Oct 2010

Hyland Keith, Shoffner John, Heales Simon J

Abstract excerpt

Cerebral folate deficiency (CFD) is defined as any neurological syndrome associated with a low cerebrospinal fluid (CSF) concentration of 5-methyltetrahydrofolate (5MTHF) in the presence of normal peripheral folate status. CFD has a wide clinical presentation, with reported signs and symptoms generally beginning at around 4 months of age with irritability and sleep disturbances. These can be followed by...

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Identifiers

PMID: 20668945
DOI: 10.1007/s10545-010-9159-6

Genes

CFD
FOLR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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