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  1. Kuseyri Hübschmann, Oya [Author]; Horvath, Gabriella [Author]; Cortès-Saladelafont, Elisenda [Author]; Yıldız, Yılmaz [Author]; Pons, Roser [Author]; Friedman, Jennifer [Author]; Mercimek-Andrews, Saadet [Author]; Wong, Suet-Na [Author]; Pearson, Toni S. [Author]; Zafeiriou, Dimitrios I. [Author]; Kulhánek, Jan [Author]; Kurian, Manju A. [Author]; López-Laso, Eduardo [Author]; Oppebøen, Mari [Author]; Kılavuz, Sebile [Author]; Wassenberg, Tessa [Author]; Goez, Helly [Author]; Scholl-Bürgi, Sabine [Author]; Porta, Francesco [Author]; Honzík, Tomáš [Author]; Santer, René [Author]; Burlina, Alberto [Author]; Sivri, H. Serap [Author]; Leuzzi, Vincenzo [Author]; [...]

    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

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    20 September 2021

    Published in: Nature Communications ; 12(2021), Artikel-ID 5529, Seite 1-13

  12. Jezela-Stanek, Aleksandra; Suchoń, Lidia; Sobczyńska-Tomaszewska, Agnieszka; Czerska, Kamila; Kuśmierska, Katarzyna; Taybert, Joanna; Ołtarzewski, Mariusz; Sykut-Cegielska, Jolanta

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

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    MDPI AG, 2022

    Published in: Genes

  14. Szypowska, Agnieszka; Franek, Edward; J. Grzeszczak, Władysław; Zięba, Mariusz; Filipow, Winicjusz; Kabicz, Paweł; Więckowska, Barbara; Sykut-Cegielska, Jolanta; Taybert, Joanna

    Treatment of classic phenylketonuria in Poland in the years 2009–2015 based on the database of the Polish National Health Fund

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    Termedia Sp. z.o.o., 2020

    Published in: Pediatric Endocrinology Diabetes and Metabolism

  15. Szypowska, Agnieszka; Franek, Edward; Grzeszczak, Władysław; Filipow, Winicjusz; Zięba, Mariusz; Kabicz, Paweł; Więckowska, Barbara; Sykut-Cegielska, Jolanta; Taybert, Joanna

    Medical care of patients with disorders of aromatic amino acid metabolism: a report based on the Polish National Health Fund data records

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    Termedia Sp. z.o.o., 2018

    Published in: Pediatric Endocrinology Diabetes and Metabolism

  18. Mazur, Artur; Jarochowicz, Sabina; Ołtarzewski, Mariusz; Sykut-Cegielska, Jolanta; Gradowska, Wanda; Januszek-Trzciąkowska, Aleksandra; O’Malley, Grace; Kwolek, Andrzej

    An Investigation of the Neurological and Neuropsychiatric Disturbances in Adults with Undiagnosed and/or Untreated Phenylketonuria in Poland : Journal of Applied Research in Intellectual Disabilities : Journal of Applied Research in Intellectual Disabilities

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    Wiley, 2011

    Published in: Journal of Applied Research in Intellectual Disabilities

  19. Pronicka, Ewa; Adamowicz, Maciej; Kowalik, Agnieszka; Płoski, Rafał; Radomyska, Barbara; Rogaszewska, Małgorzata; Rokicki, Dariusz; Sykut-Cegielska, Jolanta

    Elevated Carbohydrate-Deficient Transferrin (CDT) and Its Normalization on Dietary Treatment as a Useful Biochemical Test for Hereditary Fructose Intolerance and Galactosemia

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    Springer Science and Business Media LLC, 2007

    Published in: Pediatric Research

  20. Tobór-Świętek, Ewa; Sykut-Cegielska, Jolanta; Bik-Multanowski, Mirosław; Walczak, Mieczysław; Rokicki, Dariusz; Kałużny, Łukasz; Wierzba, Joanna; Pac, Małgorzata; Jahnz-Różyk, Karina; Więsik-Szewczyk, Ewa; Kieć-Wilk, Beata

    COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases—Organizational Challenges from the Point of View of Healthcare Providers

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    MDPI AG, 2021

    Published in: Journal of Clinical Medicine