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ObjectiveGenome‐wide association studies have identified single nucleotide polymorphisms in genes that might influence intestinal barrier function (HNF4A, ECM1, CDH1 and LAMB1) to increase the risk for ulcerative colitis (UC). The aim of our study was to detect causative sequence alterations and provide a functional link to a disturbed intestinal permeability (IP) in UC.
MethodsA total of 19 UC patients...
Wilson’s disease (WD) is an autosomal recessive disorder and the WD heterozygote carriers (Hzc) should not exhibit symptoms of the disease. The aim of this study was to assess 12 WD Hzc by brain Proton MR Spectroscopy. In three cases, the levels of caeruloplasmin, and in one case, serum copper, were below our normal range. In two Hzc the aspartate and alanine aminotransferase levels in the blood were...
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