Format

Send to

Choose Destination
See comment in PubMed Commons below
J Pediatr. 2008 Sep;153(3):435-7. doi: 10.1016/j.jpeds.2008.04.009.

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

Author information

  • 1Department of Medicine, Albert Einstein College of Medicine, Bronx, NY, USA.

Abstract

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.

PMID:
18718264
PMCID:
PMC3835188
DOI:
10.1016/j.jpeds.2008.04.009
[PubMed - indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science Icon for PubMed Central
    Loading ...
    Support Center