Publications
- Decreased serum antioxidant capacity in patients with Wilson disease is associated with neurological symptoms2012 | First Faculty of Medicine
- Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations2012 | First Faculty of Medicine
- Long-term follow-up of Wilson Disease: natural history, treatment, mutations analysis and phenotypic correlation2011 | First Faculty of Medicine, Second Faculty of Medicine
- Structural basis for human NADPH-cytochrome P450 oxidoreductase deficiency2011 | First Faculty of Medicine
- Mutations of human cytochrome P450 reductase differentially modulate heme oxygenase-1 activity and oligomerization2011 | First Faculty of Medicine
- APOE epsilon 4: a potential modulation factor in Rett syndrome2010 | First Faculty of Medicine
- Lichen sclerosus et atrophicus-like skin lesions in a patient carrying a novel hydroxymethylbilane synthase mutation2010 | First Faculty of Medicine
- Rett Syndrome2009 | First Faculty of Medicine
- Acute intermittent porphyria - impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties2009 | First Faculty of Medicine
- Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis2009 | First Faculty of Medicine
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