Results 211 to 220 of about 9,381 (248)
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Virchows Archiv, 2004
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. Since daily copper intake exceeds the body's requirements, effective means of excreting excess copper are essential. These are accomplished by ATP7B, a new member of the cation-transporting p-type ATPase family, which is mainly expressed in the liver and mediates both copper ...
Cord, Langner, Helmut, Denk
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Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. Since daily copper intake exceeds the body's requirements, effective means of excreting excess copper are essential. These are accomplished by ATP7B, a new member of the cation-transporting p-type ATPase family, which is mainly expressed in the liver and mediates both copper ...
Cord, Langner, Helmut, Denk
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Clinical Gastroenterology and Hepatology, 1998
Wilson's disease is an autosomal, recessive-inherited disorder of impaired biliary copper excretion that results in the accumulation of copper in various organs including the liver, the cornea and the brain. The Wilson's disease gene on chromosome 13 codes for a copper transporting P-type ATPase-ATP7B.
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Wilson's disease is an autosomal, recessive-inherited disorder of impaired biliary copper excretion that results in the accumulation of copper in various organs including the liver, the cornea and the brain. The Wilson's disease gene on chromosome 13 codes for a copper transporting P-type ATPase-ATP7B.
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Current Opinion in Neurology, 2020
Purpose of review The aim of this article is to review recent developments in the areas of the disease features and treatment of Wilson disease, and survey disorders that share its pathophysiology or clinical symptoms. Recent findings Knowledge of the clinical spectrum of Wilson ...
Annu, Aggarwal, Mohit, Bhatt
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Purpose of review The aim of this article is to review recent developments in the areas of the disease features and treatment of Wilson disease, and survey disorders that share its pathophysiology or clinical symptoms. Recent findings Knowledge of the clinical spectrum of Wilson ...
Annu, Aggarwal, Mohit, Bhatt
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Best Practice & Research Clinical Gastroenterology, 2010
Wilson disease is an inherited autosomal recessive disorder of copper balance leading to hepatic damage and neurological disturbance of variable degree. The defective gene, ATP7B, encodes a hepatic copper-transporting protein, which plays a key role in human copper metabolism.
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Wilson disease is an inherited autosomal recessive disorder of copper balance leading to hepatic damage and neurological disturbance of variable degree. The defective gene, ATP7B, encodes a hepatic copper-transporting protein, which plays a key role in human copper metabolism.
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Archives of Neurology, 1988
To the Editor. —Our experience with both penicillamine and/or zinc worsening neurologic symptoms agrees with that of Brewer et al. 1 The exact cause of this initial exacerbation of symptoms is different with these two types of therapy, as we know from 22 years of experience using penicillamine and trace elements as therapy.
C C, Pfeiffer, B, Camo
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To the Editor. —Our experience with both penicillamine and/or zinc worsening neurologic symptoms agrees with that of Brewer et al. 1 The exact cause of this initial exacerbation of symptoms is different with these two types of therapy, as we know from 22 years of experience using penicillamine and trace elements as therapy.
C C, Pfeiffer, B, Camo
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Parkinsonism & Related Disorders, 2009
Wilson’s disease (WD), also called progressive hepatolenticular degeneration, is a rare autosomal recessive inborn error of metabolism, first described by S.A.K. Wilson in 1912 [1]. The consequences of this disorder, related to copper deposition in various tissues, are treatable and preventable.
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Wilson’s disease (WD), also called progressive hepatolenticular degeneration, is a rare autosomal recessive inborn error of metabolism, first described by S.A.K. Wilson in 1912 [1]. The consequences of this disorder, related to copper deposition in various tissues, are treatable and preventable.
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Current Treatment Options in Gastroenterology, 1999
Early diagnosis permits preventive therapy to preempt development of organ damage. In all diagnosed patients, both symptomatic and asymptomatic, pharmacologic therapy is lifelong, and maintenance treatment to prevent copper toxicity is mandatory. Patients with either fulminant hepatic failure or hepatic insufficiency unresponsive to medical therapy ...
, Tavill, , Schilsky
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Early diagnosis permits preventive therapy to preempt development of organ damage. In all diagnosed patients, both symptomatic and asymptomatic, pharmacologic therapy is lifelong, and maintenance treatment to prevent copper toxicity is mandatory. Patients with either fulminant hepatic failure or hepatic insufficiency unresponsive to medical therapy ...
, Tavill, , Schilsky
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Metabolic Brain Disease, 2005
Wilson disease (WD) is an autosomal recessive inherited disorder of copper metabolism, resulting in pathological accumulation of copper in many organs and tissues. The hallmarks of the disease are the presence of liver disease, neurologic symptoms, and Kayser-Fleischer corneal rings.
Reinhard, Kitzberger +2 more
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Wilson disease (WD) is an autosomal recessive inherited disorder of copper metabolism, resulting in pathological accumulation of copper in many organs and tissues. The hallmarks of the disease are the presence of liver disease, neurologic symptoms, and Kayser-Fleischer corneal rings.
Reinhard, Kitzberger +2 more
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Continuum, 2016
This article reviews the clinical features of Wilson disease, focusing on the neurologic and psychiatric abnormalities, and addresses the diagnostic workup and treatment approaches to managing the disease.The list of known mutations causing Wilson disease continues to grow, but advances in genetic testing may soon make it feasible to routinely perform ...
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This article reviews the clinical features of Wilson disease, focusing on the neurologic and psychiatric abnormalities, and addresses the diagnostic workup and treatment approaches to managing the disease.The list of known mutations causing Wilson disease continues to grow, but advances in genetic testing may soon make it feasible to routinely perform ...
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Seminars in Diagnostic Pathology, 2019
Wilson disease (WD) is an inherited disorder of copper metabolism. The resultant defective handling of copper results in toxic effects on the hepatocytes and increased copper in the circulation. Copper accumulates in other organ sites especially the central nervous system.
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Wilson disease (WD) is an inherited disorder of copper metabolism. The resultant defective handling of copper results in toxic effects on the hepatocytes and increased copper in the circulation. Copper accumulates in other organ sites especially the central nervous system.
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