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J Inherit Metab Dis

The association of protein-losing enteropathy with cobalamin C defect.

Year 1998
Ellaway C. Christodoulou J. Kamath R. Carpenter K. Wilcken B.
Department of Biochemical Genetics, Royal Alexandra Hospital for Children, Westmead, New South Wales, Australia.
We report a male infant with cobalamin C defect whose clinical course was complicated by diarrhoea suggestive of a protein-losing enteropathy, failure to thrive, macrocytosis and thrombocytopenia which resolved with hydroxocobalamin treatment. Protein-losing enteropathy has not previously been reported in association with cobalamin C defect and, if unrecognized, could cause considerable morbidity.

Источник: https://gastroportal.ru/science-articles-of-world-periodical-eng/j-inherit-metab-dis.html
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