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Whole brain volume and cortical thickness abnormalities in Wilson’s disease: a clinical correlation study
Wilson’s disease (WD) is an inherited autosomal recessive disorder of copper metabolism, and its neurological and neuropsychiatric manifestations are...
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Mutations in the ATP7B Gene in Ukrainian Patients with High Risk of Wilson’s Disease
AbstractWilson’s disease (WD) is an autosomal recessive condition caused by an impaired copper metabolism due to hereditary mutations in the ATP7B ...
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A population-based epidemiology of Wilson’s disease in South Korea between 2010 and 2016
Very few population-based studies have examined the epidemiology of Wilson’s disease (WD). We investigated the epidemiology of WD using the National...
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Diffuse Liver Disease
Diffuse liver disease is multifactorial and may arise from metabolic, storage, vascular or neoplastic disease or from drug-related toxicities....
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The macrophage activation marker soluble CD163 is elevated and associated with liver disease phenotype in patients with Wilson’s disease
BackgroundMacrophages play a significant role in liver disease development and progression. The macrophage activation marker soluble (s)CD163 is...
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Crystalline Disease
Ultrasound is indispensable when evaluating gout or calcium pyrophosphate deposition disease. For gout, distinct sonographic findings are detectable,...
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Excessive copper impairs intrahepatocyte trafficking and secretion of selenoprotein P
Selenium homeostasis depends on hepatic biosynthesis of selenoprotein P (SELENOP) and SELENOP-mediated transport from the liver to e.g. the brain. In...
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Metabolomic profiling of Wilson disease, an inherited disorder of copper metabolism, and diseases with similar symptoms but normal copper metabolism
BackgroundWilson’s disease (WD) is a hereditary disorder that results in the accumulation of copper. The pathogenic mechanism is not well understood,...
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Fatty Liver Disease
This chapter on fatty liver deals mainly with NASH and NAFLD, its salient histological features, and scoring. A brief discussion of the spectrum of...
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History Taking and Management of a Patient Presenting with Tremor
Areas to focus on: essential tremor, alcohol or medication-induced, enhanced physiologic tremor, cerebellar disease, hyperthyroidism, anxiety,...
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COVID-19-induced multisystem inflammatory syndrome in a child with Wilson disease: a case report
BackgroundInfection with coronavirus disease 2019 (COVID-19) can progress to the multisystem inflammatory syndrome in children (MIS-C). Patients with...
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Systemic Disease and the Skin
This chapter begins with a review of the various autoinflammatory disorders which result from immune dysregulation and have been traced to a variety...
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Recurrent acute pancreatitis in a Wilson disease patient: an unusual association
BackgroundWilson’s disease is a multisystem disorder with predominant clinical symptoms depending on the site of copper deposition in the body....
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Left ventricular clefts – incidental finding or pathologic sign of Wilson’s disease?
BackgroundWilson’s disease is an inherited autosomal recessive multi-systemic disorder characterized by reduced excretion and consequently excessive...
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Liver Stiffness in Patients with Wilson’s Disease
Wilson’s disease (WD) is an inherited disorder of copper metabolism that effects liver and brain function. Liver involvement presents as either acute...
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A paradigm shift in non-viral liver cirrhosis: a multicenter study on clinicoepidemiological characteristics and outcome of non-B non-C cirrhosis
BackgroundChronic hepatitis C (HCV) and B viruses (HBV) represent the commonest global causes of liver cirrhosis. Other etiologies of non-viral...
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Spectrum of Mutations in the ATP7B Gene in Russian Patients with Wilson’s Disease
AbstractWilson’s disease (WD) is an autosomal recessive disease caused by an excessive accumulation of copper. The molecular genetic etiology of the...
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Sleep Disorders in Wilson’s Disease
Purpose of ReviewWe aimed to review the sleep disorders described in Wilson’s disease (WD), focusing on their mechanisms and treatments.
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WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson’s Disease
Wilson disease (WD) is one of the most prevalent genetic diseases with an estimated global carrier frequency of 1 in 90 and a prevalence of 1 in...
