Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx


A 32 year-old asymptomatic male came to our attention with a 21-year history, documented elsewhere, of puzzling increases in his serum transaminase level. At first, very low serum ceruloplasmin level suggested Wilson disease. Two liver biopsies showed mild portal inflammation, steatosis and mild fibrosis. Further investigation revealed low levels of the… (More)
DOI: 10.1007/s10545-008-1004-9


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