Literature DB >> 3813642

Congenital isolated folic acid malabsorption.

J Urbach, A Abrahamov, N Grossowicz.   

Abstract

We report a case of congenital isolated malabsorption of folic acid, the first in a boy. Only seven previous cases have been reported, and we discuss two aspects--namely, the tendency to infection, with evidence of impairment of both cellular and humoral immunity, and the absence of neurological disturbances.

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Year:  1987        PMID： 3813642      PMCID： PMC1778153          DOI： 10.1136/adc.62.1.78

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  5 in total

1.  Microbiologic determination of folic acid derivatives in blood.

Authors:  N GROSSOWICZ; F MANDELBAUM-SHAVIT; R DAVIDOFF; J ARONOVITCH
Journal:  Blood       Date:  1962-11       Impact factor: 22.113

2.  Congenital isolated defect of folic acid absorption.

Authors:  P J Santiago-Borrero; R Santini; E Pérez-Santiago; N Maldonado
Journal:  J Pediatr       Date:  1973-03       Impact factor: 4.406

3.  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

4.  Depressed cell-mediated immunity in megaloblastic anemia due to folic acid deficiency.

Authors:  R L Gross; J V Reid; P M Newberne; B Burgess; R Marston; W Hift
Journal:  Am J Clin Nutr       Date:  1975-03       Impact factor: 7.045

5.  Congenital folate malabsorption.

Authors:  L Corbeel; G Van den Berghe; J Jaeken; J Van Tornout; R Eeckels
Journal:  Eur J Pediatr       Date:  1985-03       Impact factor: 3.183
  5 in total
  5 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.  Folate deficiency in cerebrospinal fluid associated with a defect in folate binding protein in the central nervous system.

Authors:  R A Wevers; S I Hansen; J L van Hellenberg Hubar; J Holm; M Høier-Madsen; P J Jongen
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-02       Impact factor: 10.154

4.  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

Review 5.  Effects of Citrus Fruit Juices and Their Bioactive Components on Inflammation and Immunity: A Narrative Review.

Authors:  Elizabeth A Miles; Philip C Calder
Journal:  Front Immunol       Date:  2021-06-24       Impact factor: 7.561
  5 in total

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