WHODAS 2.0 to access functional disabilities of Wilson disease’s patients
Objective: We aim to analyze the disability status of WD patients by using the World Health Organization Disability Assessment Schedule 2.0 scale (WHODAS 2.0) and…Epidemiological, clinical and paraclinical characteristics of metals accumulation in brain in childhood
Objective: The aim of our study is to describe epidemiological, clinical, and paraclinical characteristics of metals accumulation in brain in children. Background: Movement disorders can…Lentiform fork sign and Wilson Disease
Objective: First description of lentiform fork sign in patients with the diagnosis of Wilson disease. Background: Lentiform fork sign is a rare neuroradiological sign characterized…D-penicillamine induced lupus erythematosus – the complication of Wilson’s disease treatment – a case report.
Objective: Wilson’s disease (WD) is an inherited disorder of copper metabolism with copper accumulation in different organs and clinical symptoms related to the affected organs…Long term follow-up of Wilson disease patients in Poland. Report from the national reference centre.
Objective: We present seven decades of experience of a single reference centre covering most adult Wilson disease (WD) patients in Poland. Background: WD is a rare…Impact of ALXN1840 on the neurological symptoms of Wilson disease: secondary outcomes of a phase 2, open-label, single-arm study
Objective: To evaluate neurological efficacy outcomes of ALXN1840 treatment in adults with Wilson disease (WD) from a phase 2, open-label, single-arm study (NCT02273596). Background: WD…Clinical presentation of Wilson’s disease in pediatric and adult patients: A systematic review
Objective: To identify the most frequent signs and symptoms in Wilson's disease comparing between pediatric and adult patients. Background: Wilson's disease or Progressive Lenticular Degeneration…Copper induced neurobehavioral features of Parkinson’s disease and oxidative stress and their abatement by Eugenol
Objective: The aim of this study was to evaluate impact of copper intoxication (10 mg/kg B.W) for 3 days on locomotor performance and oxidative status,…Cooper-deficiency myeloneuropathy in Wilson´s Disease as a result of D-penicillamine treatment: A case report
Objective: To present a case of subacute combined degeneration of the spinal cord secondary to iatrogenic copper deficiency as a result of D-penicillamine therapy. Background:…Movement disorders in a family carrying ATP7A variant
Objective: To report an early onset parkinsonism in a family carrying a pathogenic variant in the ATP7A gene. Background: ATP7A variants cause Menkes disease (MD), a…