Results 11 to 20 of about 11,447 (146)
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
Clinical and Paraclinical Features of Wilson’s Disease in Children in Shiraz, Southern Iran
Galen Medical Journal, 2014 Background: Wilson disease (WD) is an autosomal recessive progressive degeneration of hepatolenticular tissue that causes the increase of copper deposition in the liver and other organs, with resultant hepatic, neurologic and psychological manifestations. WD is fatal if left untreated.
Asma Erjaee +5 more
openaire +2 more sources
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
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
Psychosis in Wilson's disease: A rare case presentation
Archives of Mental Health, 2021 Wilson's disease is an uncommon genetic disorder, in which abnormal copper accumulation occurs in various parts of the body. Approximately 30% of patients debut with neuropsychiatric symptoms posing a diagnostic challenge in the initial phase.
Kota Raga Sumedha +2 more
doaj +1 more source