Literature DB >> 19036097

Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF.

Andrea E Ament, Zhongyuan Li, Amy C Sturm, James D Perko, Sarah Lawson, Margaret Masterson, Edward V Quadros, Stephan M Tanner.   

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Year:  2008        PMID： 19036097      PMCID： PMC2636683          DOI： 10.1111/j.1365-2141.2008.07496.x

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


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  10 in total

1.  Idiopathic chronic megaloblastic anemia in children.

Authors:  O IMERSLUND
Journal:  Acta Paediatr Suppl       Date:  1960-01

2.  Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome.

Authors:  R GRASBECK; R GORDIN; I KANTERO; B KUHLBACK
Journal:  Acta Med Scand       Date:  1960-07-15

3.  Vitamin B 12 malabsorption due to a biologically inert intrinsic factor.

Authors:  M Katz; S K Lee; B A Cooper
Journal:  N Engl J Med       Date:  1972-08-31       Impact factor: 91.245

4.  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

5.  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

6.  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

7.  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 8.  Update on cobalamin, folate, and homocysteine.

Authors:  Ralph Carmel; Ralph Green; David S Rosenblatt; David Watkins
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2003

9.  Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.

Authors:  Stephan M Tanner; Zhongyuan Li; Ryan Bisson; Ceren Acar; Cihan Oner; Reyhan Oner; Mualla Cetin; Mohamed A Abdelaal; Essam A Ismail; Willy Lissens; Ralf Krahe; Harald Broch; Ralph Gräsbeck; Albert de la Chapelle
Journal:  Hum Mutat       Date:  2004-04       Impact factor: 4.878

Review 10.  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
  10 in total
  9 in total

1.  Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities.

Authors:  Cameron M Beech; Sandya Liyanarachchi; Nidhi P Shah; Amy C Sturm; May F Sadiq; Albert de la Chapelle; Stephan M Tanner
Journal:  Orphanet J Rare Dis       Date:  2011-11-13       Impact factor: 4.123

2.  Hereditary intrinsic factor deficiency in chaldeans.

Authors:  Amy C Sturm; Elizabeth C Baack; Michael B Armstrong; Deborah Schiff; Ayesha Zia; Sureyya Savasan; Albert de la Chapelle; Stephan M Tanner
Journal:  JIMD Rep       Date:  2012-03-18

Review 3.  Juvenile selective vitamin B₁₂ malabsorption: 50 years after its description-10 years of genetic testing.

Authors:  Ralph Gräsbeck; Stephan M Tanner
Journal:  Pediatr Res       Date:  2011-09       Impact factor: 3.756

4.  Juvenile cobalamin deficiency in a 17-year-old child with autonomic dysfunction and skin changes.

Authors:  Abdul Hafeez Siddiqui; Aamir Ansari; Cameron M Beech; Nidhi P Shah; Stephan M Tanner; Sharada A Sarnaik
Journal:  J Pediatr Hematol Oncol       Date:  2012-03       Impact factor: 1.289

Review 5.  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

6.  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

7.  Middle Eastern Adolescent With Macrocytic Anemia.

Authors:  Sneha Butala; Brian Berman
Journal:  Glob Pediatr Health       Date:  2017-02-14

8.  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

9.  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
  9 in total

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