Current and emerging issues in Wilson's disease

EA Roberts, ML Schilsky - New England Journal of Medicine, 2023 - Mass Medical Soc
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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 …

A multidisciplinary approach to the diagnosis and management of Wilson disease: Executive summary of the 2022 Practice Guidance on Wilson disease from the …

ML Schilsky, EA Roberts, JM Bronstein, A Dhawan… - Hepatology, 2023 - journals.lww.com
Copper is an essential metal required for many metalloproteins' function. A fraction of dietary
copper (average 2–5 mg/day) is absorbed by enterocytes in the duodenum and proximal …

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's disease: an update on the diagnostic workup and management

B Kasztelan-Szczerbinska, H Cichoz-Lach - Journal of clinical medicine, 2021 - mdpi.com
Wilson's disease (WD) is a rare autosomal recessive disorder of hepatocellular copper
deposition. The diagnostic approach to patients with WD may be challenging and is based …

[HTML][HTML] The role of zinc in the treatment of Wilson's disease

A Avan, A Członkowska, S Gaskin, A Granzotto… - International journal of …, 2022 - mdpi.com
Wilson's disease (WD) is a hereditary disorder of copper metabolism, producing abnormally
high levels of non-ceruloplasmin-bound copper, the determinant of the pathogenic process …

[HTML][HTML] Liquid chromatography–tandem mass spectrometry in newborn screening laboratories

MH Gelb, K Basheeruddin, A Burlina, HJ Chen… - International Journal of …, 2022 - mdpi.com
Tandem mass spectrometry (MS/MS) is the most universal platform currently available for
the analysis of enzymatic activities and biomarkers in dried blood spots (DBS) for …

Cuproptosis and Cu: a new paradigm in cellular death and their role in non-cancerous diseases

Z Yang, R Feng, H Zhao - Apoptosis, 2024 - Springer
Cuproptosis, a newly characterized form of regulated cell death driven by copper
accumulation, has emerged as a significant mechanism underlying various non-cancerous …

Cuproptosis-Related Gene – SLC31A1, FDX1 and ATP7B – Polymorphisms are Associated with Risk of Lung Cancer

Y Yun, Y Wang, E Yang, X **g - … and personalized medicine, 2022 - Taylor & Francis
Background Cuproptosis is a novel copper-dependent cell death, and the copper level was
increased in lung cancer patients. However, few studies evaluated the association between …

Copper homeostasis dysregulation promoting cell damage and the association with liver diseases

T Liu, Y Liu, F Zhang, Y Gao - Chinese Medical Journal, 2023 - mednexus.org
Copper plays an important role in many metabolic activities in the human body. Copper level
in the human body is in a state of dynamic equilibrium. Recent research on copper …