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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.
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The spectrum of liver presentation in wilson's disease: a literature review
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
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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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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
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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
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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
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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
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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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Nephrotic syndrome after treatment with D-penicillamine in a patient with Wilson’s disease
Wilson’s disease is an inherited autosomal recessive disorder of copper balance leading to accumulation of copper mainly in liver and brain result from absent or reduced function of copper-transporting P-type ATPase.
Kostadinova Anna D. +3 more
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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
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