Imerslund-Gräsbeck syndrome is a condition caused by low levels of vitamin B12 (also known as cobalamin).
genetic conditions
References
Gräsbeck R. Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorptionwith proteinuria). Orphanet J Rare Dis. 2006 May 19;1:17. Review.
Kozyraki R, Cases O. Vitamin B12 absorption: mammalian physiology and acquiredand inherited disorders. Biochimie. 2013 May;95(5):1002-7. doi:10.1016/j.biochi.2012.11.004.
Kristiansen M, Aminoff M, Jacobsen C, de La Chapelle A, Krahe R, Verroust PJ, Moestrup SK. Cubilin P1297L mutation associated with hereditary megaloblasticanemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) bycubilin. Blood. 2000 Jul 15;96(2):405-9.
Tanner SM, Sturm AC, Baack EC, Liyanarachchi S, de la Chapelle A. Inheritedcobalamin malabsorption. Mutations in three genes reveal functional and ethnicpatterns. Orphanet J Rare Dis. 2012 Aug 28;7:56. doi: 10.1186/1750-1172-7-56.
Watkins D, Rosenblatt DS. Lessons in biology from patients with inborn errors of vitamin B12 metabolism. Biochimie. 2013 May;95(5):1019-22. doi:10.1016/j.biochi.2013.01.013.
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?