Literature DB >> 11804211

A family study of congenital malabsorption of folate.

S Jebnoun1, S Kacem, C H Mokrani, A Chabchoub, N Khrouf, J Zittoun.   

Abstract

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Year:  2001        PMID： 11804211     DOI： 10.1023/a:1012905823879

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  2 in total

1.  Therapy of congenital folate malabsorption.

Authors:  M Poncz; N Colman; V Herbert; E Schwartz; A R Cohen
Journal:  J Pediatr       Date:  1981-01       Impact factor: 4.406

2.  Effect of folate and cobalamin compounds on the deoxyuridine suppression test in vitamin B12 and folate deficiency.

Authors:  J Zittoun; J Marquet; R Zittoun
Journal:  Blood       Date:  1978-01       Impact factor: 22.113
  2 in total
  8 in total

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

Authors:  A Torres; S A Newton; B Crompton; A Borzutzky; E J Neufeld; L Notarangelo; G T Berry
Journal:  JIMD Rep       Date:  2015-05-26

Review 2.  Mechanisms of membrane transport of folates into cells and across epithelia.

Authors:  Rongbao Zhao; Ndeye Diop-Bove; Michele Visentin; I David Goldman
Journal:  Annu Rev Nutr       Date:  2011-08-21       Impact factor: 11.848

3.  Properties of the Arg376 residue of the proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorption.

Authors:  Kris Mahadeo; Ndeye Diop-Bove; Daniel Shin; Ersin Selcuk Unal; Juliana Teo; Rongbao Zhao; Min-Hwang Chang; Andreas Fulterer; Michael F Romero; I David Goldman
Journal:  Am J Physiol Cell Physiol       Date:  2010-08-04       Impact factor: 4.249

4.  Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.

Authors:  Daniel Sanghoon Shin; Kris Mahadeo; Sang Hee Min; Ndeye Diop-Bove; Peter Clayton; Rongbao Zhao; I David Goldman
Journal:  Mol Genet Metab       Date:  2011-01-25       Impact factor: 4.797

5.  Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption.

Authors:  Berna Atabay; Meral Turker; Esra Arun Ozer; Kris Mahadeo; Ndeye Diop-Bove; I David Goldman
Journal:  Pediatr Hematol Oncol       Date:  2010-11       Impact factor: 1.969

Review 6.  Inborn errors of metabolism underlying primary immunodeficiencies.

Authors:  Nima Parvaneh; Pierre Quartier; Parastoo Rostami; Jean-Laurent Casanova; Pascale de Lonlay
Journal:  J Clin Immunol       Date:  2014-08-01       Impact factor: 8.317

7.  The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.

Authors:  Rongbao Zhao; Sang Hee Min; Andong Qiu; Antoinette Sakaris; Gary L Goldberg; Claudio Sandoval; J Jeffrey Malatack; David S Rosenblatt; I David Goldman
Journal:  Blood       Date:  2007-04-19       Impact factor: 22.113

8.  Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter.

Authors:  Arturo Borzutzky; Brian Crompton; Anke K Bergmann; Silvia Giliani; Sachin Baxi; Madelena Martin; Ellis J Neufeld; Luigi D Notarangelo
Journal:  Clin Immunol       Date:  2009-09-09       Impact factor: 3.969
  8 in total

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