Results 41 to 50 of about 11,342 (257)
Wilson’s disease masquerading as mania
, 2016 Wilson’s disease involves abnormal copper metabolism, with associated impairments in the liver/brain. While psychiatric symptoms have been reported in about 20% cases at presentation; mania as an initial manifestation is rare in this patient group.
Mitra, Sayantanava +2 more
core +1 more source
Practical insights into chronic management of hepatic Wilson’s disease [PDF]
, 2022 Wilson’s disease (WD) is a rare inherited disorder of human copper metabolism, with an estimated prevalence of 1:30000-1:50000 and a broad spectrum of hepatic and neuropsychiatric manifestations.
Lynch, Erica Nicola +5 more
core +1 more source
FEBS Open Bio, EarlyView.The crystal structure of Borrelia burgdorferi nicotinamidase (PncA/BBE22) reveals the correct full‐length protein initiated from a non‐canonical AUU start codon. The structure validates previous biochemical findings and resolves a long‐standing annotation error, demonstrating that the truncated database sequence is structurally incompatible with the ...
Kalvis Brangulis
wiley +1 more source
Wilson’s disease: A case report with review of literature
, 1970 Wilson’s disease is a rare inborn error of metabolism characterized by abnormal deposition of copper in various tissues caused by the inability to excrete copper into the bile. Wilson’s disease is also known as hepatolenticular degeneration because liver
Rao, Bhimeswara +2 more
core +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
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
doaj +1 more source
A Child of Wilson’s Disease Presenting with Coprolalia
, 2017 Wilson’s disease is a rare autosomal recessive genetic disorder of copper metabolism. Neurological and psychiatric manifestations can be a presenting manifestation of Wilson’s disease.
Sumit Kumar Gupta +3 more
core +1 more source
Diagnosing Wilson’s Disease under the sword of Damocles
, 2020 Introduction. Antos et al. [7] have reported a case of suspected uniparental disomy leading to an initial erroneous diagnosis of Wilson’s Disease on the basis of genetic testing.
Pfeiffer, Ronald F.; Oregon Health and Science University (OHSU), Portland, Oregon, United States
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro +14 more
wiley +1 more source
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
doaj +1 more source