Literature DB >> 20408840

Vitamin B12 deficiency in a 15-year old boy due to mutations in the intrinsic factor gene, GIF.

Ulrik M Overgaard, Stephan M Tanner, Henrik S Birgens.   

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Year:  2010        PMID： 20408840      PMCID： PMC2914612          DOI： 10.1111/j.1365-2141.2010.08198.x

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  9 in total

Review 1.  The kidney in vitamin B12 and folate homeostasis: characterization of receptors for tubular uptake of vitamins and carrier proteins.

Authors:  Henrik Birn
Journal:  Am J Physiol Renal Physiol       Date:  2006-07

2.  Familial selective vitamin B12 malabsorption in three families.

Authors:  S Yetgin; C Altay; Y Laleli
Journal:  Turk J Pediatr       Date:  1978 Jan-Apr       Impact factor: 0.552

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.  Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.

Authors:  Stephan M Tanner; Zhongyuan Li; James D Perko; Cihan Oner; Mualla Cetin; Cigdem Altay; Zekiye Yurtsever; Karen L David; Laurence Faivre; Essam A Ismail; Ralph Gräsbeck; Albert de la Chapelle
Journal:  Proc Natl Acad Sci U S A       Date:  2005-02-28       Impact factor: 11.205

5.  Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.

Authors:  Stephan M Tanner; Maria Aminoff; Fred A Wright; Sandya Liyanarachchi; Mervi Kuronen; Anne Saarinen; Orit Massika; Hanna Mandel; Harald Broch; Albert de la Chapelle
Journal:  Nat Genet       Date:  2003-02-18       Impact factor: 38.330

Review 6.  Advances in the understanding of cobalamin assimilation and metabolism.

Authors:  Edward V Quadros
Journal:  Br J Haematol       Date:  2009-10-12       Impact factor: 6.998

7.  The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless.

Authors:  John C Fyfe; Mette Madsen; Peter Højrup; Erik I Christensen; Stephan M Tanner; Albert de la Chapelle; Qianchuan He; Søren K Moestrup
Journal:  Blood       Date:  2003-10-23       Impact factor: 22.113

8.  Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency.

Authors:  Fawwaz Yassin; Sheldon P Rothenberg; Sreedhar Rao; Marilyn M Gordon; David H Alpers; Edward V Quadros
Journal:  Blood       Date:  2003-10-23       Impact factor: 22.113

Review 9.  Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria).

Authors:  Ralph Gräsbeck
Journal:  Orphanet J Rare Dis       Date:  2006-05-19       Impact factor: 4.123
  9 in total
  4 in total

1.  Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario.

Authors:  A Ferrand; V M Siu; C A Rupar; M P Napier; O Y Al-Dirbashi; P Chakraborty; C Prasad
Journal:  JIMD Rep       Date:  2014-10-12

2.  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

3.  Profound vitamin D deficiency in four siblings with Imerslund-Grasbeck syndrome with homozygous CUBN mutation.

Authors:  Jose I R Ciancio; Mark Furman; Siddharth Banka; Stephanie Grunewald
Journal:  JIMD Rep       Date:  2019-07-26

4.  Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene-a case report.

Authors:  Jing Ruan; Bing Han; Junling Zhuang; Miao Chen; Fangfei Chen; Yuzhou Huang; Wenzhe Zhou
Journal:  BMC Med Genet       Date:  2020-11-10       Impact factor: 2.103
  4 in total

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