Results 221 to 230 of about 187,102 (250)
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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
openaire +2 more sources
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
openaire +2 more sources
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 ...
openaire +2 more sources
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
Seminars in Diagnostic Pathology, 2019
Wilson disease (WD) is an inherited disorder of copper metabolism. The resultant defective handling of copper results in toxic effects on the hepatocytes and increased copper in the circulation. Copper accumulates in other organ sites especially the central nervous system.
openaire +2 more sources
Wilson disease (WD) is an inherited disorder of copper metabolism. The resultant defective handling of copper results in toxic effects on the hepatocytes and increased copper in the circulation. Copper accumulates in other organ sites especially the central nervous system.
openaire +2 more sources
Topological materials discovery from crystal symmetry
Nature Reviews Materials, 2021Benjamin J Wieder +2 more
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Copper homeostasis and cuproptosis in health and disease
Signal Transduction and Targeted Therapy, 2022Junxia Min, Fudi Wang
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Structure of the Wilson disease copper transporter ATP7B
Science Advances, 2022Ryan Bitter, SeCheol Oh, Zengqin Deng
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Wilson’s disease: update on pathogenesis, biomarkers and treatments
Journal of Neurology, Neurosurgery and Psychiatry, 2021Samuel Shribman +2 more
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Liver cell death and anemia in Wilson disease involve acid sphingomyelinase and ceramide
Nature Medicine, 2007, Saisudha Koka, Stephan M Huber
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