نتایج جستجو برای: imerslund

تعداد نتایج: 58  

Journal: :British medical journal 1977
B Attock G W Marsh M Rossiter A V Hoffbrand

Selective malabsorption of vitamin B12 without proteinuria or structural renal tract anomaly The first reports by Imerslund' and Grasbeck2 of children presenting with a megaloblastic anaemia due to vitamin B1 2 deficiency but with normal gastric intrinsic factor activity (Imerslund-Grasbeck syndrome or selective malabsorption of vitamin BI 2) described associated proteinuria. In a review of 49 ...

Journal: :Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia 2013
Zafer Ercan Mehmet E Demir Turgay Ulas Muharrem Ingec Mehmet Horoz

1. Behrend M. Adverse gastrointestinal effects of mycophenolate mofetil: aetiology, incidence and management. Drug Saf 2001;24:645-63. 2. Zolezzi M. Mycophenolate Sodium versus Mycophenolate Mofetil: A Review of Their Comparative Features. Saudi J Kidney Dis Transpl 2005;16:140-45. 3. Selbst MK, Ahrens WA, Robert ME, Friedman A, Proctor DD, Jain D. Spectrum of histologic changes in colonic biop...

Journal: :Blood 2004
John C Fyfe Mette Madsen Peter Højrup Erik I Christensen Stephan M Tanner Albert de la Chapelle Qianchuan He Søren K Moestrup

Imerslund-Gräsbeck syndrome (I-GS, megaloblastic anemia 1) is an autosomal recessive disorder characterized by intestinal cobalamin (vitamin B(12)) malabsorption and proteinuria. I-GS-causing mutations are found in either of 2 genes encoding the epithelial proteins: cubilin and amnionless (AMN). Cubilin recognizes intrinsic factor (IF)-cobalamin and various other proteins to be endocytosed in t...

1998
Renata Kozyraki Mette Kristiansen Asli Silahtaroglu Claus Hansen Christian Jacobsen Niels Tommerup Pierre J. Verroust Søren K. Moestrup

Uptake of vitamin B12 (cyanocobalamin) is facilitated by the cobalamin-binder gastric intrinsic factor (IF), which recognizes a 460-kD receptor, cubilin, present in the epithelium of intestine and kidney. Surface plasmon resonance analysis of ligand-affinity-purified human cubilin demonstrated a highaffinity calciumand cobalamin-dependent binding of IFcobalamin. Complete cDNA cloning of the hum...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2005
Stephan M Tanner Zhongyuan Li James D Perko Cihan Oner Mualla Cetin Cigdem Altay Zekiye Yurtsever Karen L David Laurence Faivre Essam A Ismail Ralph Gräsbeck Albert de la Chapelle

Hereditary juvenile megaloblastic anemia due to vitamin B12 (cobalamin) deficiency is caused by intestinal malabsorption of cobalamin. In Imerslund-Grasbeck syndrome (IGS), cobalamin absorption is completely abolished and not corrected by the administration of intrinsic factor (IF); if untreated, the disease is fatal. Biallelic mutations either in the cubilin (CUBN) or amnionless (AMN) gene cau...

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