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  1. Article

    Open Access

    Status epilepticus in POLG disease: a large multinational study

    We aimed to provide a detailed phenotypic description of status epilepticus (SE) in a large cohort of patients with POLG disease and identify prognostic biomarkers to improve the management of this life-threat...

    Omar Hikmat, Karin Naess, Martin Engvall, Claus Klingenberg… in Journal of Neurology (2024)

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  2. Article

    Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease

    Omar Hikmat, Charalampos Tzoulis… in Journal of Inherited Metabolic Disease (2018)

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    Article

    The presence of anaemia negatively influences survival in patients with POLG disease

    Mitochondria play an important role in iron metabolism and haematopoietic cell homeostasis. Recent studies in mice showed that a mutation in the catalytic subunit of polymerase gamma (POLG) was associated with ha...

    Omar Hikmat, Tzoulis Charalampos… in Journal of Inherited Metabolic Disease (2017)