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Items: 20

1.

Hereditary intrinsic factor deficiency in chaldeans.

Sturm AC, Baack EC, Armstrong MB, Schiff D, Zia A, Savasan S, de la Chapelle A, Tanner SM.

JIMD Rep. 2013;7:13-8. doi: 10.1007/8904_2012_133. Epub 2012 Mar 18.

2.

Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant.

Chery C, Hehn A, Mrabet N, Oussalah A, Jeannesson E, Besseau C, Alberto JM, Gross I, Josse T, Gérard P, Guéant-Rodriguez RM, Freund JN, Devignes J, Bourgaud F, Peyrin-Biroulet L, Feillet F, Guéant JL.

Biochimie. 2013 May;95(5):995-1001. doi: 10.1016/j.biochi.2013.01.022. Epub 2013 Feb 8.

PMID:
23402911
3.

Acute lymphoblastic leukemia and vitamin B12 deficiency secondary to a gastric intrinsic factor gene mutation.

Zia A, Fışgin T, Sokolowski C, Tanner SM, Savaşan S.

Pediatr Blood Cancer. 2012 Oct;59(4):766-7. doi: 10.1002/pbc.24190. Epub 2012 May 3. No abstract available.

PMID:
22556038
4.

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

Tanner SM, Li Z, Perko JD, Oner C, Cetin M, Altay C, Yurtsever Z, David KL, Faivre L, Ismail EA, Gräsbeck R, de la Chapelle A.

Proc Natl Acad Sci U S A. 2005 Mar 15;102(11):4130-3. Epub 2005 Feb 28.

5.

Reassessment of intrinsic factor and parietal cell autoantibodies in atrophic gastritis with respect to cobalamin deficiency.

Lahner E, Norman GL, Severi C, Encabo S, Shums Z, Vannella L, Delle Fave G, Annibale B.

Am J Gastroenterol. 2009 Aug;104(8):2071-9. doi: 10.1038/ajg.2009.231. Epub 2009 Jun 2.

PMID:
19491828
6.

A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.

Gordon MM, Brada N, Remacha A, Badell I, del Río E, Baiget M, Santer R, Quadros EV, Rothenberg SP, Alpers DH.

Hum Mutat. 2004 Jan;23(1):85-91.

PMID:
14695536
7.
8.

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

Overgaard UM, Tanner SM, Birgens HS.

Br J Haematol. 2010 Aug;150(3):369-71. doi: 10.1111/j.1365-2141.2010.08198.x. Epub 2010 Apr 12. No abstract available.

9.

[Homozygous mutation in the intrinsic factor gene in a child with severe vitamin B12 deficiency].

Leunbach TL, Johansen P, Tanner SM, Gräsbeck R, Helgestad J.

Ugeskr Laeger. 2011 Aug 22;173(34):2047-8. Danish.

PMID:
21867658
10.

Intrinsic factor deficiency in adults with normal hydrochloric acid production.

Meeroff JC, Zagalsky D, Meeroff M.

Gastroenterology. 1981 Mar;80(3):575-7.

PMID:
7450447
11.

The effect of recombinant human intrinsic factor on the uptake of vitamin B12 in patients with evident vitamin B12 deficiency.

Hvas AM, Buhl H, Laursen NB, Hesse B, Berglund L, Nexo E.

Haematologica. 2006 Jun;91(6):805-8. Epub 2006 May 16.

12.
13.

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

Ament AE, Li Z, Sturm AC, Perko JD, Lawson S, Masterson M, Quadros EV, Tanner SM.

Br J Haematol. 2009 Feb;144(4):622-4. doi: 10.1111/j.1365-2141.2008.07496.x. Epub 2008 Nov 19. No abstract available.

14.

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

Yassin F, Rothenberg SP, Rao S, Gordon MM, Alpers DH, Quadros EV.

Blood. 2004 Feb 15;103(4):1515-7. Epub 2003 Oct 23.

15.

Vitamin B12 deficiency and lack of intrinsic factor associated with a smooth muscle tumor of the stomach. Remission after surgery.

Zecler E, Leiba H, Eshchar J, Reif R, Gilboa Y.

Isr J Med Sci. 1974 Sep;10(9):1139-42. No abstract available.

PMID:
4436038
16.

Congenital intrinsic factor deficiency in a Spanish patient.

Remacha AF, Sambeat MA, Barceló MJ, Mones J, García-Die J, Gimferrer E.

Ann Hematol. 1992 Apr;64(4):202-4.

PMID:
1581408
17.

[Congenital intrinsic factor deficiency. Apropos of 3 cases in a sibship].

Loras-Duclaux I, Descos B, Souillet G, Lachaux A, Badinand P, Montagnon N, Minaire Y, Hermier M.

Arch Fr Pediatr. 1988 Mar;45(3):197-9. French.

PMID:
3395196
18.

Amyloidosis of the stomach associated with impaired gastric secretion of intrinsic factor and the development of vitamin B12 deficiency.

Brandt K, Cathcart ES, Streiff R, Cohen AS.

Isr J Med Sci. 1968 Sep-Oct;4(5):1005-11. No abstract available.

PMID:
5715477
20.

Defective intrinsic fibrinolytic activity in a patient with severe factor XII-deficiency and myocardial infarction.

Lodi S, Isa L, Pollini E, Bravo AF, Scalvini A.

Scand J Haematol. 1984 Jul;33(1):80-2.

PMID:
6463588

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