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Krzysztof Szczaluba

Medical University of Warsaw

Warsaw

Poland

  • Medical University of Warsaw

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Scholarly Papers (1)

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A rare GCH1 p.Arg170Gly variant shows impaired enzymatic activity and co-occurs with a novel NEXMIF p.Asp155GlnfsTer2 leading to a complex neurological phenotype: functional studies and clinical aspects

Number of pages: 34 Posted: 02 Dec 2025
Klaudia Ślusarczyk, Julia Zuzanna Kamińska, Katarzyna Kuśmierska, Elzbieta Czyzyk, Magdalena Łazicka, Kacper Domżał, Sylwia Rzońca-Niewczas, Aleksandra Landowska, Krzysztof Szczaluba, Katarzyna Wertheim-Tysarowska, Krystyna Szymanska, Jolanta Sykut-Cegielska, Jakub Drożak and Agnieszka Magdalena Rygiel
affiliation not provided to SSRN, University of Warsaw, Medical University of Warsaw, affiliation not provided to SSRN, University of Warsaw, University of Warsaw, affiliation not provided to SSRN, affiliation not provided to SSRN, Medical University of Warsaw, affiliation not provided to SSRN, Medical University of Warsaw, affiliation not provided to SSRN, University of Warsaw and affiliation not provided to SSRN
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GTP cyclohydrolase 1 deficiency, GCH1, NEXMIF variants, functional studies, intellectual disability, epilepsy