Heterozygous ATP7B variants in patients with parkinsonism
Objective: To describe a retrospective case series of thirteen cases carriers of heterozygous variants of the ATP7B gene manifesting with specific cases of parkinsonism. Background:…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…Laboratory changes of the liver function in the patients with Wilson’s disease
Objective: Wilson's disease (WD) is a chronic progressive neurodegenerative disease with a genetically determined disorder of copper metabolism due to mutations in the ATP7B gene,…Wilson’s Disease : A Senegalese Series of Seven Patients Followed at Pikine National Hospital Centre (Dakar-Senegal)
Objective: The aim of this study is to describe the epidemiological, diagnostic, therapeutic and evolutionary characteristics of Wilson's disease and to highlight the diagnostic and…Transition from Zinc Salts to Trientine Tetrahydrochloride in Wilson Disease: Clinical and Biochemical Effects over Two Years – the ZICUP study
Objective: To assess the clinical and biochemical effects of transitioning from zinc salts (ZS) to trientine tetrahydrochloride (TETA4HCL) in Wilson disease (WD) patients over a…A Case of Concurrent Wilson Disease and Parkinson Disease
Objective: to present a case of concurrent Wilson disease and Parkinson disease. Background: Wilson disease (WD) is a rare autosomal recessive disease that typically manifests…
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