Skip to search formSkip to main contentSkip to account menu

Folate Malabsorption, Hereditary

Known as: Congenital Folate Malabsorption, Folic Acid Transport Defect, Hereditary Folate Malabsorption 
National Institutes of Health

Related topics

Related topics

15 relations
AtaxiaAthetosisAutosomal recessive inheritanceBasal ganglia calcification

Broader (2)

Folic Acid DeficiencyMalabsorption Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Hereditary folate malabsorption with a novel mutation on SLC46A1
Rationale: Hereditary folate malabsorption (HFM) is characterized by folate deficiency with impaired intestinal folate absorption… 
Review
2015
Review
2015
The First Annual BU Neurology Symposium
We previously demonstrated that expression of the epsilon2 allele of human apolipoprotein E via intraventricular injection of… 
2013
2013
Role of the fourth transmembrane domain in proton-coupled folate transporter function as assessed by the substituted cysteine accessibility method.
The proton-coupled folate transporter (PCFT, SLC46A1) mediates folate transport across the apical brush-border membrane of the… 
2013
2013
A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption.
2012
2012
Functional roles of the A335 and G338 residues of the proton-coupled folate transporter (PCFT-SLC46A1) mutated in hereditary folate malabsorption.
The proton-coupled folate transporter (PCFT-SLC46A1) mediates intestinal folate absorption and folate transport across the… 
2011
2011
Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico.
2010
2010
MUTATION OF THE PROTON-COUPLED FOLATE TRANSPORTER GENE (PCFT-SLC46A1) IN TURKISH SIBLINGS WITH HEREDITARY FOLATE MALABSORPTION
Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder characterized by systemic and central nervous system… 
2009
2009
Hereditary folate malabsorption: a positively charged amino acid at position 113 of the proton-coupled folate transporter (PCFT/SLC46A1) is required for folic acid binding.
Review
2000
Review
2000
[Folate deficiency and congenital folate malabsorption].
1980
1980
Effect of folic and folinic acid on serum and CSF folate levels in congenital folate malabsorption.
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)