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…Movement disorders as a manifestation of aceruloplasminemia a case report
Objective: To develop a step-by-step diagnostic approach to aceruloplasminemia with initial presentation of movement disorders Background: Aceruloplasminemia is a rare iron overload disorder with autosomal…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,…Progressive myoclonus ataxia and resting tremor in hypoceruloplasminemia
Objective: To describe two familiar cases of hypoceruloplasminemia presenting with movement disorders Background: Aceruloplasminemia is a metabolic disorder caused by mutations in the ceruloplasmin (CP)…Fatal Psychosis in a young Girl
Objective: We describe a 24-year young female who presented to us with features of Neurolept malignant syndrome. She was later evaluated and found to have…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…Late onset Wilson’s disease with hepatic and neurological manifestations
Objective: To report a patient with clinically diagnosed late-onset Wilson’s disease (WD). Background: WD is an autosomal recessive disorder of copper biliary excretion caused by…A case report of Wilson Disease in a Kyrgyz teenager
Objective: Information on the occurrence of WD in the Kyrgyz Republic is currently missing. However, based on previously received epidemiological data to the territories of…Wilson disease: a systematic review and meta-analysis in phenotype – genotype correlations
Objective: To characterize the phenotypic and genotypic spectra in Wilson disease (WD) and to investigate the relationships between the neurological and hepatic phenotypes and the…Wislon disease: clinical specificities of the disease course under normal ceruloplasmin in the blood, a clinical case from Kyrgyzstan
Objective: Apparent clinical picture of Wilson's disease with normal blood ceruloplasmin levels in young patients with Wilson's disease. Background: Wilson's disease is a hereditary disease…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.