Results 61 to 70 of about 13,679,770 (330)
Bioengineering, 2019 Wilson Disease is a rare autosomal recessive liver disorder in humans. Although its clinical presentation and age of onset are highly variable, hallmarks include signs of liver disease, neurological features and so-called Kayser-Fleischer rings in the ...
Hedwig S. Kruitwagen +2 more
doaj +1 more source
Copper – a novel stimulator of autophagy
Cell Stress, 2020 Toxic copper accumulation causes Wilson disease, but trace amounts of copper are required for cellular and organismal survival. In a recent paper Tsang et al.
Hans Zischka, Guido Kroemer
doaj +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
The first experience of non-interferon therapy of HCV infection in patients with Wilson-Konovalov’s disease [PDF]
Терапевтический архив, 2018 In the article we present three clinical observations demonstrating that HCV infection in patients with remission of Wilson disease causes an recrudescence of the disease, in one of the observations - decompensation of liver cirrhosis.
T P Rozina +5 more
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Challenges in the diagnosis of Wilson disease.
Annals of Translational Medicine, 2019 The understanding and management of Wilson disease (WD) have dramatically improved since the first description of the disease by K. Wilson more than a century ago.
A. Poujois, F. Woimant
semanticscholar +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
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
Biochemical Markers for the Diagnosis and Monitoring of Wilson Disease.
Clinical biochemist reviews, 2019 Wilson disease (WD) is an autosomal recessively-inherited disorder of copper metabolism and characterised by a pathological accumulation of copper. The ATP7B gene encodes for a transmembrane copper transporter essential for biliary copper excretion ...
I. Mohr, K. Weiss
semanticscholar +1 more source
Advances in Treatment of Wilson Disease
Tremor and Other Hyperkinetic Movements, 2018 Background Wilson disease (WD) is an inherited neurometabolic disorder that results in excessive copper deposition in the liver and the brain, affecting children and young adults. Without treatment the disease is invariably fatal.
A. Aggarwal, M. Bhatt
semanticscholar +1 more source
Alagille Syndrome and Wilson Disease in Siblings: A Diagnostic Conundrum [PDF]
, 2012 The authors describe two siblings, each with a different, rare genetic condition that affects liver function. The index case, the 18-year-old asymptomatic brother of a young man recently diagnosed with Wilson disease, presented for Wilson disease ...
Marc Tischkowitz +3 more
core +1 more source