Imerslund-Grasbeck Syndrome: A Case Report.

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Date
2011-09
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Abstract
Imerslund- Grasbeck syndrome is a rare autosomal recessive disorder due to selective malabsorption of Vitamin B12 at the level of cobalamin-intrinsic factor receptor mutation in the terminal ileum resulting in megaloblastic anaemia with proteinuria. Early detection of this rare disorder would enable screening and genetic counselling for asymptomatic family members.
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Keywords
Imurslund Grasbeck Syndrome, Megaloblastic anaemia, Proteinuria
Citation
Ghosh T N, Nayek K, Banerjee A. Imerslund-Grasbeck Syndrome: A Case Report. Journal of Nepal Paediatric Society. 2011 Sept-Dec; 31(3): 249-250.