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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.
openaire +2 more sources