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Seminars in Neurology, 2023
AbstractWilson's disease (WD) can present with liver disease, neurological deficits, and psychiatric disorders. Results of genetic prevalence studies suggest that WD might be much more common than previously estimated. Early recognition of WD remains challenging because it is a great imitator and requires a high index of suspicion for correct and ...
Manida, Wungjiranirun, Kaveh, Sharzehi
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AbstractWilson's disease (WD) can present with liver disease, neurological deficits, and psychiatric disorders. Results of genetic prevalence studies suggest that WD might be much more common than previously estimated. Early recognition of WD remains challenging because it is a great imitator and requires a high index of suspicion for correct and ...
Manida, Wungjiranirun, Kaveh, Sharzehi
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Medicine, 2002
Abstract Wilson's disease is an autosomal recessive disorder of hepatic copper disposition caused by mutations in the gene ATP7B , located on chromosome 13. This gene encodes a P-type ATPase, known as the Wilson ATPase, which functions within hepatocytes to move copper across intracellular membranes.
Anand, Pandit +2 more
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Abstract Wilson's disease is an autosomal recessive disorder of hepatic copper disposition caused by mutations in the gene ATP7B , located on chromosome 13. This gene encodes a P-type ATPase, known as the Wilson ATPase, which functions within hepatocytes to move copper across intracellular membranes.
Anand, Pandit +2 more
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2006
Wilson disease is a recessively inherited disorder of copper transport. Clinical features are highly variable, with any combination of neurological, hepatic or psychiatric illness. The age of onset varies from 3 to 50 years of age. Diagnosis is challenging because no specific combination of clinical or biochemical features is necessarily definitive ...
E A, Roberts, D W, Cox
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Wilson disease is a recessively inherited disorder of copper transport. Clinical features are highly variable, with any combination of neurological, hepatic or psychiatric illness. The age of onset varies from 3 to 50 years of age. Diagnosis is challenging because no specific combination of clinical or biochemical features is necessarily definitive ...
E A, Roberts, D W, Cox
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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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