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…Gait Improvement in Pegzilarginase-treated Patients With Arginase 1 Deficiency: A Blinded Kinematic Analysis
Objective: To assess the impact of pegzilarginase therapy on gait kinematics in Arginase 1 Deficiency (ARG1-D) patients. Background: High arginine levels in patients with ARG1-D…Eye movement disorders in adolescents and adults with an inborn errors of metabolism
Objective: To describe and analyze eye movements in patients with an inborn errors of metabolism Background: Inborn errors of metabolism (IEMs) presenting in adults are…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…PLA2G6-Associated Neurodegeneration: A Continuum of Phenotypes
Objective: To characterize the spectrum of phenotypes of PLA2G6-associated neurodegeneration in a single patient. Background: The phospholipase A2 Group VI (PLA2G6) gene encodes a cytosolic and…Wearable sensors are able to identify individuals in the prodromal phase of X-linked Dystonia-Parkinsonism
Objective: To identify subclinical changes of balance and gait in patients with X-linked dystonia-parkinsonism (XDP) and non-manifesting carriers of the XDP-causing mutation. Background: XDP is…MOLECULAR-GENETIC ASPECTS OF WILSON’S DISEASE IN UKRAINE
Objective: To assess the features of molecular genetic mutations in the Ukrainian population of patients with Wilson's disease (WD). Background: Molecular genetic research becomes available…Accuracy of Frontal Assessment Battery to detect Mild Cognitive Impairment in a Cuban sample of Parkinson’s disease patients
Objective: The aim of this study is to evaluate the accuracy (sensitivity and specificity) of Frontal Assessment Battery (FAB) for detecting executive deficits in a…The Gastrointestinal Dysfunction Scale – Parkinson’s Disease (GIDS-PD): a new tool to assess gastrointestinal dysfunction in Parkinson’s Disease
Objective: Objective: To develop and validate the Gastrointestinal Dysfunction Scale – Parkinson’s Disease (GIDS-PD), a self-report scale designed to assess presence and severity of Gastrointestinal…
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