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Katarzyna Kuśmierska

Medical University of Warsaw

Warsaw

Poland

  • Medical University of Warsaw

SCHOLARLY PAPERS

2

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79

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Scholarly Papers (2)

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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

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
Downloads 53 (1,031,043)

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GTP cyclohydrolase 1 deficiency, GCH1, NEXMIF variants, functional studies, intellectual disability, epilepsy

2.

Molecular heterogeneity in AADC deficiency: variant-dependent effects on AADC activity

Number of pages: 29 Posted: 25 Apr 2026
Klaudia Ślusarczyk, Julia Zuzanna Kamińska, Natalia Głogowska, Giovanni Bisello, Jaroslaw Poznanski, Katarzyna Kuśmierska, Jolanta Sykut-Cegielska, Krystyna Szymańska, Mariarita Bertoldi, Jakub Drożak and Agnieszka Magdalena Rygiel
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
Downloads 26 (1,372,601)

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AADC deficiency, DOPA decarboxylase, enzyme activity, DDC gene