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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,...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: National Academy of Sciences 2005
Gaiak:
Sarrera elektronikoa: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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