Results 21 to 30 of about 9,381 (248)
Unilateral K-F ring in Wilson’s disease
GMS Ophthalmology Cases, 2023 Wilson’s disease, also called hepatolenticular degeneration, has varied clinical manifestations and poses diagnostic challenges. Kayser-Fleischer ring, when present, is considered pathognomic of Wilson’s disease.
Hegde, Shruti P. +1 more
doaj +1 more source
Medicine, 1992 Wilson disease is an inherited disorder of copper metabolism. Progress has been made in establishing the location of the gene on the long arm of chromosome 13, and in finding nearby probes that can be used to identify affected sibs of newly diagnosed patients. However, the gene has not been cloned, and the molecular nature of the defect remains unknown.
G J, Brewer, V, Yuzbasiyan-Gurkan
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Neuropsychiatric disorders in Wilson’s disease: literature review
Neurologijos seminarai, 2023 Wilson’s disease is a rare autosomal recessive disease due to the pathogenic mutations in the ATP7B gene that causes impaired copper excretion in the liver and its accumulation in tissues and organs.
S. Galnaitytė, A. Musneckis
doaj +3 more sources
Construction of diagnostic prediction model for Wilson's disease
Frontiers in Surgery, 2023 BackgroundWilson's disease, also known as hepatolenticular degeneration, is a rare human autosomal recessive inherited disorder of copper metabolism. The clinical manifestations are diverse, and the diagnosis and treatment are often delayed.
Yao Wang +4 more
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Autonomic Dysfunction in Wilson's Disease: A Comprehensive Evaluation during a 3-Year Follow Up
Frontiers in Physiology, 2017 Objectives: Wilson's disease is reported to have autonomic dysfunction, but comprehensive evaluation of autonomic function is lacking. Additionally, little is known about the change of autonomic function of Wilson's disease during continuous therapy.
Kai Li +8 more
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Journal of Medical Case Reports, 2010 Introduction We report an unusual case of Wilson's disease that was revealed by presentation of leptospirosis. The prompt detection of this potentially life-threatening disease highlights the importance of careful investigation.
Andreadis Emmanuel A +2 more
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Nature Reviews Disease Primers, 2018 Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that is characterized by the pathological accumulation of copper. WD is caused by mutations in ATP7B, which encodes a transmembrane copper-transporting ATPase, leading to impaired copper homeostasis and copper overload in the liver, brain and other organs.
Członkowska, Anna +8 more
openaire +6 more sources
Srpski Arhiv za Celokupno LekarstvoWilson’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
Impact of Asymptomatic Intracranial Hemorrhage on Outcome After Endovascular Stroke Treatment
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Endovascular treatment (EVT) achieves high rates of recanalization in acute large‐vessel occlusion (LVO) stroke, but functional recovery remains heterogeneous. While symptomatic intracranial hemorrhage (sICH) has been well studied, the prognostic impact of asymptomatic intracranial hemorrhage (aICH) after EVT is less certain ...
Shihai Yang +22 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo +88 more
wiley +1 more source