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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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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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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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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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JAMA: The Journal of the American Medical Association, 1978
R A, Kyle, M A, Shampo
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R A, Kyle, M A, Shampo
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