Serum amino acid profile in patients with Parkinson’s disease

por Figura, Monika, Kuśmierska, Katarzyna, Bucior, Ewelina, Szlufik, Stanisław, Koziorowski, Dariusz, Jamrozik, Zygmunt, Janik, Piotr
Publicado 2018

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene

por Jezela-Stanek, Aleksandra, Blaz, Witold, Gora, Artur, Bochenska, Malgorzata, Kusmierska, Katarzyna, Sykut-Cegielska, Jolanta
Publicado 2020

Dietary Intake and Circulating Amino Acid Concentrations in Relation with Bone Metabolism Markers in Children Following Vegetarian and Omnivorous Diets

por Ambroszkiewicz, Jadwiga, Gajewska, Joanna, Mazur, Joanna, Kuśmierska, Katarzyna, Klemarczyk, Witold, Rowicka, Grażyna, Strucińska, Małgorzata, Chełchowska, Magdalena
Publicado 2023

The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders

por Szymańska, Krystyna, Szczałuba, Krzysztof, Ługowska, Agnieszka, Obersztyn, Ewa, Radkowski, Marek, Nowakowska, Beata A., Kuśmierska, Katarzyna, Tryfon, Jolanta, Demkow, Urszula
Publicado 2014

Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population—Data Based on the National Newborn Screening Programme

por Jezela-Stanek, Aleksandra, Suchoń, Lidia, Sobczyńska-Tomaszewska, Agnieszka, Czerska, Kamila, Kuśmierska, Katarzyna, Taybert, Joanna, Ołtarzewski, Mariusz, Sykut-Cegielska, Jolanta
Publicado 2022

The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role

por Bisello, Giovanni, Kusmierska, Katarzyna, Verbeek, Marcel M., Sykut–Cegielska, Jolanta, Willemsen, Michèl A. A. P., Wevers, Ron A., Szymańska, Krystyna, Poznanski, Jarosław, Drozak, Jakub, Wertheim–Tysarowska, Katarzyna, Rygiel, Agnieszka Magdalena, Bertoldi, Mariarita
Publicado 2022