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

Hereditary juvenile megaloblastic anemia due to vitamin B(12) (cobalamin) deficiency is caused by intestinal malabsorption of cobalamin. In Imerslund–Gräsbeck syndrome (IGS), cobalamin absorption is completely abolished and not corrected by the administration of intrinsic factor (IF); if untreated,...

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Bibliografiske detaljer
Main Authors: Tanner, Stephan M., Li, Zhongyuan, Perko, James D., Öner, Cihan, Çetin, Mualla, Altay, Çiğdem, Yurtsever, Zekiye, David, Karen L., Faivre, Laurence, Ismail, Essam A., Gräsbeck, Ralph, de la Chapelle, Albert
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2005
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC554821/
https://ncbi.nlm.nih.gov/pubmed/15738392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0500517102
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