نتایج جستجو برای: hereditary hemochromatosis
تعداد نتایج: 85981 فیلتر نتایج به سال:
background there have been very few studies evaluating the close association between excess iron and cirrhosis; however, cirrhosis could be regarded as an iron-loading disorder. objectives in this study, the goal was to show the levels of the iron content in the liver tissue in certain types of cirrhosis. patients and methods in this 7 year study (2008 - 2014), in 1000 explanted livers, the amo...
We present a 27-year-old female Caucasian patient, who initially presented with extensive fragility and blistering of mainly the dorsal side of both hands. Histology and urine porphyrin analysis confirmed the diagnosis of porphyria cutanea tarda. Internal screening for underlying disease revealed C282Y mutation-associated primary hemochromatosis, a hereditary iron-overload syndrome that may cau...
Maastricht University, School for Public Health and Primary Care (CAPHRI), Department of General Practice, 6200 MD Maastricht, Netherlands Department of Internal Medicine and Gastroenterology, Atrium Medisch Centrum Parkstad, 6401 CX Heerlen, Netherlands Department of Laboratory Medicine, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, Netherlands Correspondence to: M A van Bokhov...
Most patients with hereditary hemochromatosis are homozygous for C282Y in the HFE gene in populations of Celtic origin, but the genetic cause of this disease is unknown in Japan because of its rarity. A 48-year-old Japanese patient was recently diagnosed with idiopathic hemochromatosis. Analysis of the entire coding region of the patient's HFE by RT-PCR showed a heterozygous nucleotide substitu...
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