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Volumn 527, Issue 2, 2013, Pages 673-674

A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption

Author keywords

Folate deficiency; Folates; HCP1, heme carrier protein; HFM, hereditary folate malabsorption; Intestinal folate transport; PCFT, proton coupled folate transporter

Indexed keywords

CYANOCOBALAMIN; FOLIC ACID; FOLINIC ACID; HEMOGLOBIN; HOMOCYSTEINE; PROTON COUPLED FOLATE TRANSPORTER;

EID: 84881549110     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.06.039     Document Type: Article
Times cited : (13)

References (11)
  • 1
    • 33751244559 scopus 로고    scopus 로고
    • Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption
    • Qiu A., et al. Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. Cell 2006, 127:917-928.
    • (2006) Cell , vol.127 , pp. 917-928
    • Qiu, A.1
  • 2
    • 59849093173 scopus 로고    scopus 로고
    • Membrane transporters and folate homeostasis: intestinal absorption and transport into systemic compartments and tissues
    • Zhao R., Matherly L.H., Goldman I.D. Membrane transporters and folate homeostasis: intestinal absorption and transport into systemic compartments and tissues. Expert Rev. Mol. Med. 2009, 11:e4.
    • (2009) Expert Rev. Mol. Med. , vol.11
    • Zhao, R.1    Matherly, L.H.2    Goldman, I.D.3
  • 3
    • 79960481261 scopus 로고    scopus 로고
    • Mechanisms of membrane transport of folates into cells and across epithelia
    • Zhao R., Diop-Bove N., Visentin M., Goldman I.D. Mechanisms of membrane transport of folates into cells and across epithelia. Annu. Rev. Nutr. 2011, 31:177-201.
    • (2011) Annu. Rev. Nutr. , vol.31 , pp. 177-201
    • Zhao, R.1    Diop-Bove, N.2    Visentin, M.3    Goldman, I.D.4
  • 4
    • 84875168040 scopus 로고    scopus 로고
    • Hereditary folate malabsorption
    • University of Washington, Seattle, Seattle (WA), R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.)
    • Diop-Bove N., Kronn D., Goldman I.D. Hereditary folate malabsorption. GeneReviews [Internet] 2011, University of Washington, Seattle, Seattle (WA). R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.).
    • (2011) GeneReviews [Internet]
    • Diop-Bove, N.1    Kronn, D.2    Goldman, I.D.3
  • 5
    • 80052814855 scopus 로고    scopus 로고
    • Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico
    • Mahadeo K., et al. Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico. J. Pediatr. 2011, 159:623-627.
    • (2011) J. Pediatr. , vol.159 , pp. 623-627
    • Mahadeo, K.1
  • 8
    • 0032732594 scopus 로고    scopus 로고
    • Isolated congenital malabsorption of folic acid in a male infant: insights into treatment and mechanism of defect
    • Malatack J.J., Moran M.M., Moughan B. Isolated congenital malabsorption of folic acid in a male infant: insights into treatment and mechanism of defect. Pediatrics 1999, 104:1133-1137.
    • (1999) Pediatrics , vol.104 , pp. 1133-1137
    • Malatack, J.J.1    Moran, M.M.2    Moughan, B.3
  • 9
    • 29344433010 scopus 로고    scopus 로고
    • Analysis of 5-methyltetrahydrofolate in serum of healthy children
    • Opladen T., Ramaekers V.T., Heimann G., Blau N. Analysis of 5-methyltetrahydrofolate in serum of healthy children. Mol. Genet. Metab. 2006, 87:61-65.
    • (2006) Mol. Genet. Metab. , vol.87 , pp. 61-65
    • Opladen, T.1    Ramaekers, V.T.2    Heimann, G.3    Blau, N.4
  • 10
    • 33746785592 scopus 로고    scopus 로고
    • Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population
    • Ormazabal A., et al. Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population. Clin. Chim. Acta 2006, 371:159-162.
    • (2006) Clin. Chim. Acta , vol.371 , pp. 159-162
    • Ormazabal, A.1
  • 11
    • 53949095411 scopus 로고    scopus 로고
    • Technical and biochemical factors affecting cerebrospinal fluid 5-MTHF, biopterin and neopterin concentrations
    • Verbeek M.M., Blom A.M., Wevers R.A., Lagerwerf A.J., van de G.J., Willemsen M.A. Technical and biochemical factors affecting cerebrospinal fluid 5-MTHF, biopterin and neopterin concentrations. Mol. Genet. Metab. 2008, 95:127-132.
    • (2008) Mol. Genet. Metab. , vol.95 , pp. 127-132
    • Verbeek, M.M.1    Blom, A.M.2    Wevers, R.A.3    Lagerwerf, A.J.4    van de, G.J.5    Willemsen, M.A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.