Results 11 to 20 of about 11,342 (257)
Rare Initial Presentation of Wilson’s Disease as Acute Encephalopathy with Recurrent Seizure
Oman Medical Journal, 2023 Basal ganglia-based movement abnormalities are the hallmark of the neuropsychiatric presentation of Wilson’s disease. Seizures are rarely reported in Wilson’s disease, especially as the initial presentation. We report a case of a 17-year-old male who was
Vinitha Leelamani, Jacob George
doaj +1 more source
Simultaneous monitoring of cerebral metal accumulation in an experimental model of Wilson’s disease by laser ablation inductively coupled plasma mass spectrometry [PDF]
BMC Neuroscience, 2014 Neuropsychiatric affection involving extrapyramidal symptoms is a frequent component of Wilson's disease (WD). WD is caused by a genetic defect of the copper (Cu) efflux pump ATPase7B. Mouse strains with natural or engineered transgenic defects of the Atp7b gene have served as model of WD.
Boaru, Sorina Georgiana +7 more
openaire +4 more sources
Co-occurrence of Wilson disease and Auto-Immune Hepatitis in 14-year-old female: A case report
Al-Mustansiriyah Journal of Pharmaceutical Sciences, 2022 Unusual cases of coexistence between Wilson's disease and autoimmune hepatitis have occurred. There are characteristics of both diseases in this community of patients, and laboratory and histo pathological findings can be misleading.
Fadwa Ghassan Hameed +3 more
doaj +1 more source
Romanian Journal of Neurology, 2011 A disturbance of copper metabolism causes hepatolenticular degeneration (Wilson’s disease), an autosomal recessive disorder whose genetic locus lies on the long arm of chromosome 13.
A. Hancu +5 more
doaj +1 more source
A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease
Molecular Genetics & Genomic Medicine, 2020 Background Wilson disease is an autosomal recessive metabolic disorder resulting from accumulation of excess copper especially in the liver and brain.
France Woimant +6 more
doaj +1 more source
Annals of General Psychiatry, 2017 Background Wilson’s disease (WD) is a rare autosomal-recessive, inherited disorder caused by a mutation in the copper-transporting gene ATP7B affecting the liver and nervous system.
Caroline Demily +9 more
doaj +1 more source
The spectrum of liver presentation in wilson's disease: a literature review
One Health & Risk Management, 2023 Introduction. Wilson's disease represents one of the genetic diseases that has lifelong treatment, which significantly improved the quality of life for patients and reduced the disabling complications associated with the lack of an early diagnosis ...
Adela TURCANU, Veronica CUMPATA
doaj +1 more source
High genetic carrier frequency of Wilson’s disease in France: discrepancies with clinical prevalence
BMC Medical Genetics, 2018 Background Wilson’s disease (WD) is a rare autosomal recessive metabolic disease caused by ATP7B gene mutations tat cause excessively high copper levels, particularly in the liver and brain.
Corinne Collet +5 more
doaj +1 more source
Pulmonary Hypertension as an Initial Presentation of Wilson’s Disease: A Case Report [PDF]
Reviews in Clinical Medicine, 2020 Wilson’s disease is a rare genetic disorder, which is associated with clinical manifestations such as liver dysfunction, psychological and neurological issues, and specific laboratory findings demonstrating the increased urinary excretion of copper and ...
Fariba Rezaeetalab, Mahnaz Mozdourian
doaj +1 more source
Arquivos de Neuro-Psiquiatria, 2014 Objective To describe characteristics of REM sleep behavior disorder in Wilson’s disease. Method Questionnaire-based interviews (patients and relatives), neurological examinations, two-week prospective dream-diary, video-polysomnography, transcranial ...
Gotthard G. Tribl +5 more
doaj +1 more source