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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Bibliografiska uppgifter
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: National Academy of Sciences 2005
Ämnen:
Biological Sciences
Länkar: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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