Results 1 to 10 of about 9,592 (229)
Arquivos de Neuro-Psiquiatria, 2013 Wilson s disease (WD) is a genetically determined, autosomal recessive disorder of copper metabolism. The gene ATP7B encodes a copper carrier that both transports copper from hepatocyte to bile and ceruloplasmin copper incorporation.
Joao Carlos Papaterra Limongi
doaj +5 more sources
Wilson’s disease with psychiatric symptoms: a case report [PDF]
Journal of Medical Case ReportsBackground Wilson’s disease is a copper metabolic disorder defined by the body’s accumulation of copper, which inhibits its excretion and initially manifests as liver and neurological symptoms. The patient reported herein showed only psychiatric symptoms
Nguyen Van Tuan +3 more
doaj +2 more sources
Wilson’s Disease with Lymphoproliferative Disorder: A Case Report [PDF]
Journal of Nepal Medical AssociationWilson's disease is characterized by copper accumulation in organs like liver, brain, and eyes, presenting with a varied clinical features, making it challenging to diagnose.
Ashish Jha +2 more
doaj +2 more sources
Seminars in Neurology, 2007 In the almost 100 years since Wilson's description of the illness that now bears his name, tremendous advances have been made in our understanding of this disorder. The genetic basis for Wilson's disease - mutation within the ATP7B gene - has been identified.
Aftab, Ala +4 more
+8 more sources
Psychiatric manifestations of Wilson’s disease
European Psychiatry, 2021 Introduction Wilson’s Disease is a rare, autosomal recessive disorder related to disturbances of copper metabolism. Its clinical picture includes hepatic, neurologic, psychiatric, and systemic manifestations. Psychiatric symptoms are frequent over the
R. Mota Freitas, M.T. Valadas
doaj +1 more source
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
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
Mayo Clinic Proceedings, 2003 Wilson disease is a rare disorder of copper metabolism that results in accumulation of copper in the liver and subsequently in other organs, mainly the central nervous system and the kidneys. Advances in the diagnosis and treatment of Wilson disease are discussed, with the emphasis that this is a disease of children, adolescents, and young adults.
+6 more sources
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
The American Journal of Clinical Nutrition, 1956 During the past decade Wilson’s disease has become one of the most intensively studied neurological disorders. The current perfervid interest in this condition almost certainly stems from recent investigations on copper metabolism which have shed light on the pathogenesis of this otherwise esoteric and seemingly unimportant disease.
openaire +6 more sources