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BMC Neurology, 2018 Background Wilson disease is a rare genetic disorder in which impaired copper excretion results in toxic copper levels and tissue damage. Manifestations are primarily hepatic and/or neuropsychiatric, with a variety of neurological phenotypes.
Anna Członkowska +5 more
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Update on the clinical management of Wilson's disease
, 2017 Peter Hedera Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA Abstract: Wilson’s disease (WD), albeit relatively rare, is an important genetic metabolic disease because of highly effective therapies that can be ...
Hedera P
core
Clinical features of Wilson disease.
Annals of Translational Medicine, 2019 Wilson disease (WD) presents often as a chameleon with a plethora of mild and discrete symptoms. As disease of young aged people, the clinical diagnosis is extremely difficult and misdiagnoses are frequent.
W. Stremmel, U. Merle, R. Weiskirchen
semanticscholar +1 more source
Ocular manifestations as the initial presentations of Wilson disease
, 2013 A 19-year-old woman presented with Kayser-Fleischer ring in her corneas and sunflower cataracts in both eyes. There were no coexisting neurologic or hepatic symptoms, both brain magnetic resonance imaging (MRI) and abdominal echo showed minimal changes ...
Tsai, Rong-Kung +2 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc +7 more
wiley +1 more source
Indian Journal of Ophthalmology. Case ReportsThis is to report a rare case of Wilson disease (WD) with Kayser–Fleischer (KF) ring with sunflower cataract along with diabetic retinopathy. A 43-year-old male patient presented to the comprehensive clinic with a chief complaint of diminution of vision ...
Daisy R Das +3 more
doaj +1 more source
Good response with zinc acetate monotherapy in an adolescent affected by severe Wilson disease
La Pediatria Medica e Chirurgica, 2012 We describe a 17-year-old girl with haemolytic anaemia as presentation of Wilson disease. The diagnosis was based on the findings of < 20 mg/dl ceruloplasmin serum level, Kayser-Fleischer ring and Coombs-negative haemolytic anaemia.
M.G. Marazzi +5 more
doaj +1 more source
Liver international (Print), 2019 Wilson disease (WD) is a rare disorder of copper metabolism. The objective of this systematic review was to determine the comparative effectiveness and safety of common treatments of WD.
Christian Appenzeller‐Herzog +5 more
semanticscholar +1 more source