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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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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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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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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 Treatment Options in Neurology, 2000
Appropriate anticopper therapy for Wilson's disease is the critical element in halting progression of the disease and allowing patient recovery. Selection of the drug or drugs to use for a particular patient depends on the stage of the disease (ie, initial acutely ill patient versus chronic maintenance patient) and the type of presentation (ie ...
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Appropriate anticopper therapy for Wilson's disease is the critical element in halting progression of the disease and allowing patient recovery. Selection of the drug or drugs to use for a particular patient depends on the stage of the disease (ie, initial acutely ill patient versus chronic maintenance patient) and the type of presentation (ie ...
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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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Medico e Bambino Pagine elettroniche
A 13-year-old boy was admitted with abdominal pain, vomiting and unexplained cytopoenia. Initial investigations showed splenomegaly, ileal wall thickening, hepatic structural alterations and persistent pancytopenia. Extensive infectious, haematological and metabolic workups yielded negative results.
Carciofi, Annalisa +5 more
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A 13-year-old boy was admitted with abdominal pain, vomiting and unexplained cytopoenia. Initial investigations showed splenomegaly, ileal wall thickening, hepatic structural alterations and persistent pancytopenia. Extensive infectious, haematological and metabolic workups yielded negative results.
Carciofi, Annalisa +5 more
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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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