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Article

The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.

The Journal of pediatrics - 1 Sept 2008

Min Sang Hee, Oh Sun Young, Karp George I, Poncz Mortimer, Zhao Rongbao, Goldman I David

Abstract excerpt

We report 2 sequential homozygous mutations in the recently cloned proton-coupled folate transporter (PCFT) gene, resulting in the absence of this protein, in a 27-year-old woman with hereditary folate malabsorption, normal in all respects having completed higher education, who has been treated with parenteral 5-formyltetrahydrofolate since infancy.

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Identifiers

PMID: 18718264
DOI: 10.1016/j.jpeds.2008.04.009
PMCID: PMC3835188

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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