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https://www.readbyqxmd.com/read/12324192/morbidity-risk-in-hfe-associated-hereditary-hemochromatosis-c282y-heterozygotes
#1
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Jurgen Fuchs, M Podda, L Packer, R Kaufmann
Hereditary hemochromatosis (HHC) is a late-onset, autosomal recessive disorder leading to a chronic iron overload syndrome, finally causing diabetes, cardiomyopathy and liver disease. HHC is the most common single gene disorder in northern Europeans that occurs with a frequency of approximately 0.5%, and most of these patients carry the C282Y and H63D mutation in the HFE gene on chromosome 6p21.3. The vast majority of HHC patients are homozygous for the C282Y mutation, but HHC phenotypes are observed in other genotypes...
November 15, 2002: Toxicology
https://www.readbyqxmd.com/read/11191743/-significance-and-prevalence-of-the-c282y-gene-mutation-of-primary-hemochromatosis-in-the-pathogenesis-of-pophyria-cutanea-tarda
#2
L Malina, E Zd'árský, S Dandová, H Michalíková, M Cerná, M Cimburová
BACKGROUND: Hitherto studies on the ethiopathogenesis of porphyria cutanea tarda (PCT) show that the major pathogenic factor is iron ion, which acts via inhibition of the uroporphyrinogen decarboxylase. New speculations have appeared on the possible relation of this role of iron and the occurrence of mutation of the recently discovered gene of the hereditary hemochromatosis HFE, which may cause the iron overloading of the organism. Our paper describes prevalence of the C282Y gene mutation (HFE) together with the clinical and laboratory record in PCT patients...
November 22, 2000: Casopís Lékar̆ů C̆eských
https://www.readbyqxmd.com/read/6274095/-crystalline-inclusion-in-hepatocytes-in-cutaneous-pophyria-tarda
#3
A Chlumská, J Chlumský, V Krtek, L Malina
No abstract text is available yet for this article.
November 1981: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/5035617/-eye-changes-in-pophyria-cutanea-tarda
#4
J Barth, C Barth
No abstract text is available yet for this article.
February 1972: Dermatologische Monatschrift
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