Novel mutation causing congenital disorder of glycosylation in a child with recurrent anasarca
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DOI: 10.1136/bcr-2021-245884
Abstract: Protein-losing enteropathy entails an excessive loss of proteins in intestinal tract due to underlying primary or secondary pathologies. It is suspected in patients with chronic diarrhoea and peripheral oedema. Faecal alpha 1 antitrypsin clearance is… read more here.
Keywords: novel mutation; mutation causing; congenital disorder; glycosylation child ... See more keywords