Literature DB >> 4540608

Congenital isolated defect of folic acid absorption.

P J Santiago-Borrero, R Santini, E Pérez-Santiago, N Maldonado.   

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Year:  1973        PMID: 4540608     DOI: 10.1016/s0022-3476(73)80119-2

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


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  6 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

2.  Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico.

Authors:  Kris M Mahadeo; Ndeye Diop-Bove; Sonia I Ramirez; Carmen L Cadilla; Enid Rivera; Madelena Martin; Norma B Lerner; Lisa DiAntonio; Salvatore Duva; Pedro J Santiago-Borrero; I David Goldman
Journal:  J Pediatr       Date:  2011-04-13       Impact factor: 4.406

Review 3.  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

4.  Congenital isolated folic acid malabsorption.

Authors:  J Urbach; A Abrahamov; N Grossowicz
Journal:  Arch Dis Child       Date:  1987-01       Impact factor: 3.791

Review 5.  Membrane transporters and folate homeostasis: intestinal absorption and transport into systemic compartments and tissues.

Authors:  Rongbao Zhao; Larry H Matherly; I David Goldman
Journal:  Expert Rev Mol Med       Date:  2009-01-28       Impact factor: 5.600

6.  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

  6 in total

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