Results 21 to 30 of about 5,194,122 (262)
Nephrotic syndrome after treatment with D-penicillamine in a patient with Wilson’s disease
Romanian Journal of Laboratory Medicine, 2014 Wilson’s disease is an inherited autosomal recessive disorder of copper balance leading to accumulation of copper mainly in liver and brain result from absent or reduced function of copper-transporting P-type ATPase.
Kostadinova Anna D. +3 more
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A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
, 2022 Wilson's disease (WD) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in the ATPase copper transporting beta (ATP7B) gene, which lead to abnormal copper deposition in different body tissues. An estimated 50%
Tjerk J. Lagrand +5 more
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Construction of diagnostic prediction model for Wilson's disease
Frontiers in Surgery, 2023 BackgroundWilson's disease, also known as hepatolenticular degeneration, is a rare human autosomal recessive inherited disorder of copper metabolism. The clinical manifestations are diverse, and the diagnosis and treatment are often delayed.
Yao Wang +4 more
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Neuropsychiatric disorders in Wilson’s disease: literature review
Neurologijos seminarai, 2023 Wilson’s disease is a rare autosomal recessive disease due to the pathogenic mutations in the ATP7B gene that causes impaired copper excretion in the liver and its accumulation in tissues and organs.
S. Galnaitytė, A. Musneckis
doaj +3 more sources
Nature Reviews Disease Primers, 2018 Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that is characterized by the pathological accumulation of copper. WD is caused by mutations in ATP7B, which encodes a transmembrane copper-transporting ATPase, leading to impaired copper homeostasis and copper overload in the liver, brain and other organs.
Członkowska, Anna +8 more
openaire +6 more sources
Medical Electron Microscopy, 2002 Wilson disease is an autosomal recessive inherited disorder of copper metabolism, characterized by the accumulation of copper in the body due to defective biliary copper excretion from hepatocytes. Recently, novel components involved in copper metabolism, including Menkes disease protein (ATP7A), Wilson disease protein (ATP7B), and copper chaperones ...
C A, Davie, A H V, Schapira
openaire +5 more sources
Autonomic Dysfunction in Wilson's Disease: A Comprehensive Evaluation during a 3-Year Follow Up
Frontiers in Physiology, 2017 Objectives: Wilson's disease is reported to have autonomic dysfunction, but comprehensive evaluation of autonomic function is lacking. Additionally, little is known about the change of autonomic function of Wilson's disease during continuous therapy.
Kai Li +8 more
doaj +1 more source
Neurologic Wilson's disease [PDF]
, 2010 Despite a long history, Wilson's disease, an autosomal recessive disease caused by mutations in the ATP7B gene, remains a commonly misdiagnosed import disease.
Matthew T. Lorincz, Lorincz, Matthew T.
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Intrahepatic Cholangiocarcinoma in Wilson’s Disease: 2 Case Reports
GE: Portuguese Journal of GastroenterologyIntroduction: Wilson’s disease is a rare autosomal recessive inherited disorder of human copper metabolism. The spectrum of clinical manifestations of liver disease ranges from asymptomatic to cirrhosis and acute liver failure.
Joana Reis Aguiar +2 more
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Journal of Medical Case Reports, 2010 Introduction We report an unusual case of Wilson's disease that was revealed by presentation of leptospirosis. The prompt detection of this potentially life-threatening disease highlights the importance of careful investigation.
Andreadis Emmanuel A +2 more
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