نتایج جستجو برای: حلقه kayser
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Here we describe a case of a 22-year-old woman who presented with acute liver failure and Kayser-Fleischer rings suggesting the diagnosis of Wilson's disease.
BACKGROUND Wilson's disease (WD) is an autosomal recessive disorder leading to copper overload, mainly in the liver and brain, due to mutations in the ATP7B gene. About 10% of heterozygous carriers of ATP7B gene mutations have decreased serum ceruloplasmin, posing diagnostic difficulties. CASE REPORT We report a four-member family wherein the 11-year-old daughter was diagnosed as having WD ba...
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