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Hereditary Juvenile Cobalamin Deficiency Caused By Mutations In The Intrinsic Factor Gene

Tanner, SM; Li, ZY; Perko, JD; Oner, C; Cetin, M; Altay, C; Yurtsever, Z; David, KL; Faivre, L; Ismail, EA; Grasbeck, R; de la Chapelle, A (Natl Acad Sciences, 2005)

Hereditary juvenile megaloblastic anemia due to vitamin B-12 (co-balamin) deficiency is caused by intestinal malabsorption of cobalamin. In Imerslund-Grasbeck syndrome (IGS), cobalamin absorption is completely abolished ...