Results 31 to 40 of about 5,188,381 (253)
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
Pulmonary Hypertension as an Initial Presentation of Wilson’s Disease: A Case Report [PDF]
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
Rare complication of hepatocellular carcinoma in Wilson's disease
The complication of hepatocellular carcinoma (HCC) in Wilson's disease is rare. Wilson's disease treatment using D‐penicillamine (DPA) is useful to prevent HCC occurrence; however, it also causes iron accumulation and synergistic radical formation in the
Marina Ohkoshi‐Yamada +3 more
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Psychosis in Wilson's disease: A rare case presentation
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
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.
Vojislav N. Perisic
doaj +3 more sources
Acute Diagnosis of Wilson’s Disease in a Teenage Patient [PDF]
Wilson’s Disease, a rare autosomal recessive genetic disease, is caused by a mutation in the ATP7B enzyme gene. Without this enzyme, copper builds up in the brain, liver, and cornea causing a multitude of symptoms.
McCarthy, Ryan +3 more
core +1 more source
Liver transplantation for Wilson's disease: our experience with review of the literature
Background/Aims: Orthotopic liver transplantation is being used with more frequency as the treatment for Wilson's disease. The experience at the Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran with orthotopic liver transplantation for
Eitan Podgaetz, MD, Carlos Chan, MD
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Elastography of the Liver in Wilson’s Disease
Staging of liver fibrosis is of special significance in Wilson’s disease as it determines the patient’s prognosis and treatment. Histopathological examination is a standard method for fibrosis assessment; however, non-invasive methods like transient ...
Piotr Nehring +2 more
doaj +1 more source
Wilson’s disease: A case report with review of literature [PDF]
Wilson’s disease is a rare inborn error of metabolism characterized by abnormal deposition of copper in various tissues caused by the inability to excrete copper into the bile. Wilson’s disease is also known as hepatolenticular degeneration because liver
Rao, Bhimeswara +2 more
core +1 more source
Wilson’s disease (WD) is an autosomal recessive inherited disorder of copper metabolism caused by mutations in the ATP7B gene, which is located on chromosome 13q14.3.
Svetel Marina +12 more
doaj +1 more source

