The Clinical Course and Genetic Defect in the PCFT Gene in a 27-Year-Old Woman with Hereditary Folate Malabsorption

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

Research output: Contribution to journalArticle

44 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)435-437
Number of pages3
JournalJournal of Pediatrics
Volume153
Issue number3
DOIs
StatePublished - Sep 2008

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Proton-Coupled Folate Transporter
Leucovorin
Education
Mutation
Genes
Proteins
Hereditary Folate Malabsorption

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

The Clinical Course and Genetic Defect in the PCFT Gene in a 27-Year-Old Woman with Hereditary Folate Malabsorption. / Min, Sang Hee; Oh, Sun Young; Karp, George I.; Poncz, Mortimer; Zhao, Rongbao; Goldman, I. David.

In: Journal of Pediatrics, Vol. 153, No. 3, 09.2008, p. 435-437.

Research output: Contribution to journalArticle

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