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.
Original language | English (US) |
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Pages (from-to) | 435-437 |
Number of pages | 3 |
Journal | Journal of Pediatrics |
Volume | 153 |
Issue number | 3 |
DOIs | |
State | Published - Sep 2008 |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health