Results 11 to 20 of about 36,446 (263)
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
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Left ventricular clefts - incidental finding or pathologic sign of Wilson's disease? [PDF]
, 2019 Background: Wilson’s disease is an inherited autosomal recessive multi-systemic disorder characterized by reduced excretion and consequently excessive accumulation of copper in different organs, such as the heart. Results: In a prospective controlled
Christoph, Marian +9 more
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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
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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
The differential diagnosis of chorea [PDF]
, 2007 Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the ...
Tabrizi, SJ, Wild, EJ
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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
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Pediatric liver diseases: current challenges and future perspectives [PDF]
, 2015 Chronic liver diseases in children represent a rising problem with significant effects on public health. In fact, several pediatric liver diseases are precursors of adult chronic hepatopathies, cirrhosis and hepatocellular carcinoma.
Alisi, Anna +5 more
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Comparative assessment of clinical rating scales in Wilson’s disease [PDF]
, 2017 Background: Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism resulting in multifaceted neurological, hepatic, and psychiatric symptoms. The objective of the study was to comparatively assess two clinical rating scales for WD,
Gotthardt, Daniel N. +7 more
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Dangerous dietary supplements: Garcinia cambogia-associated hepatic failure requiring transplantation. [PDF]
, 2016 Commercial dietary supplements are marketed as a panacea for the morbidly obese seeking sustainable weight-loss. Unfortunately, many claims cited by supplements are unsupported and inadequately regulated.
Bodzin, Adam S +4 more
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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