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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 …
mutations in ATP7B and associated with neurological, psychiatric, ophthalmological and …
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 …
modify disease progression. This disease is caused by copper overload primarily in the liver …
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 …
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 …
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
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 …
and hepatic presentations. Chelation therapy is used to 'de-copper'patients but neurological …
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 …
metabolism caused by ATP7B (encoding a copper-transporting P-type ATPase) variants that …
[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 …
tests reflecting disturbed copper metabolism may be needed. Testing for ATP7B variants has …
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 …
characterized by the pathological accumulation of copper in the liver and brain. Common …
[HTML][HTML] The mutation spectrum and ethnic distribution of Wilson disease, a review
Wilson's disease is a complicated medical condition caused by the accumulation of copper,
mostly in the liver and brain. The genetic basis of Wilson's disease is attributed to the …
mostly in the liver and brain. The genetic basis of Wilson's disease is attributed to the …
Genetics and epigenetic factors of Wilson disease
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 …
and brain. The genetic base of WD is represented by pathogenic mutations of the copper …