Wilson disease: an overview and approach to management

C Mulligan, JM Bronstein - Neurologic clinics, 2020 - neurologic.theclinics.com
Wilson disease is one of the few movement disorders in which there are therapies that
modify disease progression. This disease is caused by copper overload primarily in the liver …

Wilson's disease: update on pathogenesis, biomarkers and treatments

S Shribman, A Poujois, O Bandmann… - Journal of Neurology …, 2021 - jnnp.bmj.com
Wilson's disease is an autosomal–recessive disorder of copper metabolism caused by
mutations in ATP7B and associated with neurological, psychiatric, ophthalmological and …

Investigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver

S Shribman, T Marjot, A Sharif… - The Lancet …, 2022 - thelancet.com
Wilson's disease is an autosomal-recessive disorder of copper metabolism with hepatic,
neurological, psychiatric, ophthalmological, haematological, renal, and rheumatological …

Wilson disease in children and young adults-State of the art

A Chanpong, A Dhawan - Saudi Journal of Gastroenterology, 2022 - journals.lww.com
Wilson disease (WD) is an autosomal recessive disorder caused by mutations of the ATP7B
gene, with a reported prevalence of 1: 30,000–50,000. ATP7B encodes an enzyme called …

Neuroimaging correlates of brain injury in Wilson's disease: a multimodal, whole-brain MRI study

S Shribman, M Bocchetta, CH Sudre… - Brain, 2022 - academic.oup.com
Wilson's disease is an autosomal-recessive disorder of copper metabolism with neurological
and hepatic presentations. Chelation therapy is used to 'de-copper'patients but neurological …

Management perspective of Wilson's disease: early diagnosis and individualized therapy

XZ Yuan, RM Yang, XP Wang - Current Neuropharmacology, 2021 - ingentaconnect.com
Wilson's disease (WD) is an inherited disease caused by mutations in ATP7B and is
characterized by the pathological accumulation of copper in the liver and brain. Common …

[HTML][HTML] Genetics and epigenetic factors of Wilson disease

V Medici, JM LaSalle - Annals of Translational Medicine, 2019 - ncbi.nlm.nih.gov
Wilson disease (WD) is a complex condition due to copper accumulation mainly in the liver
and brain. The genetic base of WD is represented by pathogenic mutations of the copper …

[HTML][HTML] Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?

C Espinós, P Ferenci - JHEP Reports, 2020 - Elsevier
The diagnosis of Wilson disease is not always easy. For many patients, a combination of
tests reflecting disturbed copper metabolism may be needed. Testing for ATP7B variants has …

Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China

S Zhang, W Yang, X Li, P Pei, T Dong, Y Yang… - Translational …, 2022 - Springer
Background Wilson's disease (WD) is an autosomal recessive disorder of copper
metabolism caused by ATP7B (encoding a copper-transporting P-type ATPase) variants that …

Diagnosis and outcomes of late‐onset Wilson's disease: a national registry‐based study

C Nilles, MA Obadia, R Sobesky… - Movement …, 2023 - Wiley Online Library
Background Wilson's disease (WD) is usually diagnosed in children and young adults;
limited data exist on late‐onset forms. Objective The aim was to characterize the clinical and …