Sporadic porphyria cutanea tarda (PCT) is caused by a reduced activity of uroporphyrinogen decarboxylase (URO-D) in the liver. Mild to moderate iron overload is common in PCT, as iron is one of the factors which trigger the clinical manifestations of the disease through the inactivation of URO-D. A
High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic
β Scribed by K. Kratka; M. Dostalikova-Cimburova; H. Michalikova; J. Stransky; J. Vranova; J. Horak
- Book ID
- 108670161
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 97 KB
- Volume
- 159
- Category
- Article
- ISSN
- 0007-0963
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et al. 6 who also found no association between the C282Y mutation and SPCT. The H63D mutation was observed in 10 of the 48 PCT patients corresponding to 20.8%. Of the 10 individuals diagnosed, 4 belonged to the familial form of PCT and 6 to the sporadic form. The mutations detected were all heteroz
Viral genotyping was performed in 61 patients with untreated chronic hepatitis C using the Inno-Lipa HCV II assay (Innogenetics, Zwijnaarde, Belgium). Steatosis was graded as previously reported. 1 The association between viral genotype and steatosis was tested using the Pearson' s 2 statistic and t