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Wilson Disease [PDF]

open access: yesMayo 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

open access: yesOne 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

Rare complication of hepatocellular carcinoma in Wilson's disease

open access: yesJGH Open, 2021
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
doaj   +1 more source

Wilson?s disease presenting as rapid eye movement sleep behavior disorder: a possible window to early treatment

open access: yesArquivos 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

open access: yesArchives 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

Pulmonary Hypertension as an Initial Presentation of Wilson’s Disease: A Case Report [PDF]

open access: yesReviews 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

Wilson’s disease [PDF]

open access: yesRomanian 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

Liver transplantation for Wilson's disease: our experience with review of the literature

open access: yesAnnals of Hepatology, 2003
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
doaj   +1 more source

Nephrotic syndrome after treatment with D-penicillamine in a patient with Wilson’s disease

open access: yesRomanian Journal of Laboratory Medicine, 2014
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
doaj   +1 more source

Elastography of the Liver in Wilson’s Disease

open access: yesDiagnostics, 2023
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

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