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copper accumulation
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Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation
2020 |
First Faculty of Medicine
publication
A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment
2023 |
First Faculty of Medicine
publication
Neurological form of Wilson disease
2011 |
First Faculty of Medicine
publication
Pathogenesis of Wilson disease
2017 |
First Faculty of Medicine
publication
Wilson Disease
2013 |
First Faculty of Medicine
publication
Tackling the neurological manifestations in Wilson's disease - currently available treatment options
2023 |
First Faculty of Medicine
publication
Decreased serum antioxidant capacity in patients with Wilson disease is associated with neurological symptoms
2012 |
First Faculty of Medicine
publication
Comparison of transcranial sonography-magnetic resonance fusion imaging in Wilson's and early-onset Parkinson's diseases
2016 |
First Faculty of Medicine