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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Autors principals: 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
Idioma:Inglês
Publicat: National Academy of Sciences 2005
Matèries:
Biological Sciences
Accés en línia: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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