Literature DB >> 14593474

Late onset of Imerslund-Gräsbeck syndrome without proteinuria in four children of one family from the Lebanon.

Jochen Rössler1, Stefanie Breitenstein, Werner Havers.   

Abstract

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Year:  2003        PMID: 14593474     DOI: 10.1007/s00431-003-1306-8

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


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  6 in total

Review 1.  Megalin and cubilin: synergistic endocytic receptors in renal proximal tubule.

Authors:  E I Christensen; H Birn
Journal:  Am J Physiol Renal Physiol       Date:  2001-04

Review 2.  Megalin- and cubilin-mediated endocytosis of protein-bound vitamins, lipids, and hormones in polarized epithelia.

Authors:  S K Moestrup; P J Verroust
Journal:  Annu Rev Nutr       Date:  2001       Impact factor: 11.848

3.  Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.

Authors:  M Aminoff; J E Carter; R B Chadwick; C Johnson; R Gräsbeck; M A Abdelaal; H Broch; L B Jenner; P J Verroust; S K Moestrup; A de la Chapelle; R Krahe
Journal:  Nat Genet       Date:  1999-03       Impact factor: 38.330

4.  Megalin-dependent cubilin-mediated endocytosis is a major pathway for the apical uptake of transferrin in polarized epithelia.

Authors:  R Kozyraki; J Fyfe; P J Verroust; C Jacobsen; A Dautry-Varsat; J Gburek; T E Willnow; E I Christensen; S K Moestrup
Journal:  Proc Natl Acad Sci U S A       Date:  2001-10-16       Impact factor: 11.205

5.  Familial selective vitamin B12 malabsorption (Imerslund-Gräsbeck syndrome) in a pool of Turkish patients.

Authors:  C Altay; M Cetin; F Gümrük; G Irken; S Yetgin; Y Laleli
Journal:  Pediatr Hematol Oncol       Date:  1995 Jan-Feb       Impact factor: 1.969

6.  Absent ileal uptake of IF-bound vitamin B12 in vivo in the Imerslund-Grasbeck syndrome (familial vitamin B12 malabsorption with proteinuria).

Authors:  J F Burman; W J Jenkins; J A Walker-Smith; A D Phillips; N A Sourial; C B Williams; D L Mollin
Journal:  Gut       Date:  1985-03       Impact factor: 23.059

  6 in total
  4 in total

1.  A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.

Authors:  Ghunwa Nakouzi; Khalil Kreidieh; Soha Yazbek
Journal:  J Community Genet       Date:  2014-09-27

2.  Imerslund-Gräsbeck syndrome in a 15-year-old German girl caused by compound heterozygous mutations in CUBN.

Authors:  Fabian H Hauck; Stephan M Tanner; Jobst Henker; Martin W Laass
Journal:  Eur J Pediatr       Date:  2007-08-01       Impact factor: 3.183

3.  Prospective long-term evaluation of parenteral hydroxocobalamin supplementation in juvenile beagles with selective intestinal cobalamin malabsorption (Imerslund-Gräsbeck syndrome).

Authors:  Peter Hendrik Kook; C E Reusch; M Hersberger
Journal:  J Vet Intern Med       Date:  2018-03-23       Impact factor: 3.333

4.  Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.

Authors:  Stephan M Tanner; Amy C Sturm; Elizabeth C Baack; Sandya Liyanarachchi; Albert de la Chapelle
Journal:  Orphanet J Rare Dis       Date:  2012-08-28       Impact factor: 4.123

  4 in total

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