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Clinical recognition and aspects of the cerebral folate deficiency syndromes.

Clinical chemistry and laboratory medicine - 1 Mar 2013

Ramaekers Vincent, Sequeira Jeffrey M, Quadros Edward V

Abstract excerpt

We characterized cerebral folate deficiency (CFD) as any neuro-psychiatric condition associated with low spinal fluid (CSF) N5-methyltetrahydrofolate (MTHF) but normal folate status outside the central nervous system (CNS). The commonest cause underlying CFD syndromes is the presence of serum autoantibodies of the blocking type directed against folate receptor-α (FRα) attached to the plasma-side of choroid plexus...

Topics

Autoantibodies
Folate Receptor 1
Folic Acid
Folic Acid Deficiency
Humans
Leucovorin
Mitochondrial Diseases
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 23314536
DOI: 10.1515/cclm-2012-0543

Genes

CFD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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