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Clinical Determinants and Prognostic Impact of Delayed Diagnosis in Wilson's Disease. [PDF]
Diagnostics (Basel)Antos A +3 more
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A Rare and Intriguing Case of Wilson's Disease Initially Suspected of Systemic Lupus Erythematosus. [PDF]
Clin Case RepKhodashahi M +6 more
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Improvement in sleep following treatment initiation in newly diagnosed, treatment-naïve patients with Wilson's disease. [PDF]
Neurol SciJernajczyk W +3 more
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Wilson's disease in two siblings from Ecuador: Two case reports.
World J Clin CasesCarrera E +3 more
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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 ...
G, Loudianos, J D, Gitlin
+9 more sources
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 ...
G, Loudianos, J D, Gitlin
+9 more sources
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
openaire +2 more sources
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
openaire +3 more sources
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
openaire +4 more sources
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
openaire +4 more sources
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
openaire +2 more sources
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
openaire +2 more sources