CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency

Gelijkaardige items

• Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption
  door: Shin, Daniel Sanghoon, et al.
  Gepubliceerd in: (2011)
• MUTATION OF THE PROTON-COUPLED FOLATE TRANSPORTER GENE (PCFT-SLC46A1) IN TURKISH SIBLINGS WITH HEREDITARY FOLATE MALABSORPTION
  door: Atabay, Berna, et al.
  Gepubliceerd in: (2010)
• The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption
  door: Zhao, Rongbao, et al.
  Gepubliceerd in: (2016)
• Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter
  door: Borzutzky, Arturo, et al.
  Gepubliceerd in: (2009)
• A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption
  door: Diop-Bove, N, et al.
  Gepubliceerd in: (2013)