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Diagnosis and phenotypic classification of Wilson disease 1
Wilson disease is an inherited autosomal recessive disorder of hepatic copper metabolism leading to copper accumulation in hepatocytes and in extrahepatic organs such as the brain and the cornea.Expand
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The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
Wilson disease (WD) is an autosomal recessive disorder characterized by the toxic accumulation of copper in a number of organs, particularly the liver and brain. As shown in the accompanying paper,Expand
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Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
Wilson disease (WD) is an autosomal recessive disorder characterized by toxic accumulation of copper in the liver and subsequently in the brain and other organs. On the basis of sequence homology toExpand
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Physical and chemical studies on ceruloplasmin. V. Metabolic studies on sialic acid-free ceruloplasmin in vivo.
Abstract Injection into rabbits of radioactive ceruloplasmin from which sialic acid had been removed enzymatically resulted in a rapid disappearance of the asialoceruloplasmin from the serum and itsExpand
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Perspectives on Wilson's disease
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Liver transplantation for Wilson's disease: Indications and outcome
The objective of this study was to determine the indications for and results of liver transplantation in patients with Wilson's disease on the basis of results of a survey with retrospective reviewExpand
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Mapping, cloning and genetic characterization of the region containing the Wilson disease gene
Wilson disease (WD) is an autosomal recessive disorder of copper transport which maps to chromosome 13q14.3. In pursuit of the WD gene, we developed yeast artificial chromosome and cosmid contigs,Expand
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IgA interaction with the asialoglycoprotein receptor.
IgA present in normal human serum reacts with the hepatic receptor specific for asialoglycoproteins as demonstrated by inhibition of receptor-mediated erythroagglutination. Inhibition is reversiblyExpand
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The use of trientine in preventing the effects of interrupting penicillamine therapy in Wilson's disease.
Penicillamine is known to be effective therapy for Wilson's disease. However, the clinical consequences of the abrupt and permanent withdrawal of penicillamine have not been investigated. We studiedExpand
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The peroxisomes of human hepatocytes.
In an ultrastructural study of human liver biopsy specimens we found that peroxisomes are regularly present in normal human hepatocytes. Their relationships with the endoplasmic reticulum observed inExpand
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