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)|
|Number of pages||3|
|Journal||Journal of Pediatrics|
|State||Published - Sep 2008|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health