Exchangeable copper as a monitoring tool in Wilson disease: lessons from a 24-month prospective cohort
Objective: To evaluate exchangeable copper (CuEXC) longitudinal kinetics and its association with clinical outcomes at 24 months in Wilson disease (WD). Background: CuEXC, reflecting the…Establishing the Diagnosis of Wilson’s Disease using the Leipzig Criteria in Patients with Neurological Manifestation: A Single-Center Observation
Objective: This study assesses the diagnostic efficacy of Leipzig’s (LZ) criteria in establishing the diagnosis of neurological type Wilson’s disease. Background: Wilson's Disease is a…Congenital Portosystemic Shunting: A Wilson’s Disease Mimic
Objective: To report a patient with a congenital extrahepatic portosystemic shunt with features mimicking those seen in Wilson’s disease Background: Wilson’s disease is an autosomal recessive disorder caused by…Detection of heterozygous ATP7B variants in Hawaii’s Parkinson’s Disease cohort: A case series of six patients
Objective: To describe clinical and demographic features of Parkinson’s Disease (PD) patients, found to be carriers of heterozygous pathogenic/likely pathogenic ATP7B variants. Background: Biallelic ATP7B…Gauging The Applicability Of The Global Assessment Scale for Wilson’s Disease in Brazil
Objective: To evaluate the clinical applicability of the Global Assessment Scale for Wilson's Disease (GAS-WD) in the Brazilian context. Background: Wilson's disease (WD) is a…Wilson’s Disease with Hereditary Hemorrhagic Telangiectasia and Pituitary Microadenoma: A Case Report
Objective: To report a case of a young female patient with Wilson's disease, hereditary hemorrhagic telangiectasia (HHT), and pituitary microadenoma, and to enhance the understanding…Microstructural Changes in the Striatum Correlate With Clinical Symptoms in Wilson Disease
Objective: To evaluate microstructural changes in the dorsal striatum and their correlation with clinical symptoms in Wilson disease (WD). Background: Advanced diffusion models, including Neurite…Study Of Epidemiological and Clinical Profile of Neurologic Wilson’s Disease from a Tertiary Care Hospital In India
Objective: To study the epidemiological profile of neurologic Wilson’s disease (WD) and to study clinical, biochemical and radiological features of neurologic WD Background: Wilson’s disease…Correlation of 7T MRI Susceptibility and Retinal Nerve Fiber Thickness with Neurological Severity in Wilson’s Disease
Objective: To evaluate susceptibility changes in the lentiform nucleus using 7T MRI and peripapillary retinal nerve fiber layer (p-RNFL) thickness using Optical Coherence Tomography (OCT)…Unmasking Wilson Disease: Subacute Neurological Complications During the COVID-19 Pandemic
Objective: We present a case of Wilson's Disease (WD) triggered by a COVID-19 infection, characterized by subacute fluctuated generalized dystonia, chorea/ballism, spasmodic dysphonia and excessive…
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