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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
openaire +2 more sources
Semiquantitative Scale for Assessing Brain MRI Abnormalities in Wilson Disease: A Validation Study
Movement Disorders, 2020MRI is a sensitive method for the assessment of brain abnormalities in Wilson disease, that is, T2 hyperintensities, T2 hypointensities, and atrophy, but a validated scoring system for the classification of radiological severity is lacking. The objective
P. Dušek +9 more
semanticscholar +1 more source
Wilson disease in children and adolescents
Archives of Disease in Childhood, 2020Wilson disease (WD) is a rare, recessively inherited disorder of copper metabolism mainly affecting liver and brain. In childhood, it is known to have a predominant hepatic phenotype. It is likely that the low awareness for WD-associated neuropsychiatric
Meranthi Fernando +3 more
semanticscholar +1 more source
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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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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Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease
Hepatology, 2019Wilson disease (WD) is an inherited disorder of hepatic copper metabolism with considerable variation in clinical presentations, the most common ones being liver disease and neuropsychiatric disturbances. This study investigated the clinical presentation
P. Ferenci +17 more
semanticscholar +1 more source
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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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.
openaire +3 more sources
Journal of clinical apheresis, 2020
To study the efficacy and safety of high volume plasma exchange (HVPE) in Wilson disease presenting as acute liver failure (WD‐ALF).
Arti Pawaria +5 more
semanticscholar +1 more source
To study the efficacy and safety of high volume plasma exchange (HVPE) in Wilson disease presenting as acute liver failure (WD‐ALF).
Arti Pawaria +5 more
semanticscholar +1 more source
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 ...
openaire +2 more sources