Author Page for Katarzyna Wertheim-Tysarowska

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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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Katarzyna Wertheim-Tysarowska

affiliation not provided to SSRN

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Scholarly Papers (1)

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

Abstract: