Literature DB >> 10545560

Isolated congenital malabsorption of folic acid in a male infant: insights into treatment and mechanism of defect.

J J Malatack1, M M Moran, B Moughan.   

Abstract

An instructive case of isolated congenital folate malabsorption provides insight into the understanding of this rare disease. Folate loading tests with both timed serum and cerebrospinal fluid folate determinations suggest that both of the two mechanisms involved in gastrointestinal folate absorption are defective in this condition.

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Year:  1999        PMID： 10545560     DOI： 10.1542/peds.104.5.1133

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


  7 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.  The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.

Authors:  Rongbao Zhao; Srinivas Aluri; I David Goldman
Journal:  Mol Aspects Med       Date:  2016-09-21

3.  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 4.  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

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

Authors:  N Diop-Bove; M Jain; F Scaglia; I D Goldman
Journal:  Gene       Date:  2013-06-28       Impact factor: 3.688

6.  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

7.  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
  7 in total

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