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  1. Bayat, Allan [Author]; Pendziwiat, Manuela [Author]; Obersztyn, Ewa [Author]; Goldenberg, Paula [Author]; Zacher, Pia [Author]; Driedger, Jan Henje [Author]; Syrbe, Steffen [Author]; Begtrup, Amber [Author]; Borovikov, Artem [Author]; Sharkov, Artem [Author]; Karasińska, Aneta [Author]; Giżewska, Maria [Author]; Mitchell, Wendy [Author]; Morava-Kozicz, Eva [Author]; Møller, Rikke S. [Author]; Rubboli, Guido [Author]

    Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures

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    Lausanne: Frontiers Media, 11 May 2021

    Published in: Frontiers in Genetics ; 12 (2021), 663643

  2. Giżewska, Maria; Levy, Harvey; Milanowski, Andrzej; Żółkowska, Joanna

    Barbara Maria Cabalska, Professor Emeritus at the Institute of Mother and Child, Warsaw, Poland (born: Warsaw, Poland, October 19, 1927; MD Warsaw Medical Academy; deceased: Warsaw, Poland, February 5, 2020)

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    Wiley, 2021

    Published in: Journal of Inherited Metabolic Disease, 44 (2021) 4, Seite 1083-1084

  3. Patalan, Michał; Leśniak, Alicja; Bernatowicz, Krzysztof; Romanowska, Hanna; Krzywińska-Zdeb, Elżbieta; Walczak, Mieczysław; Giżewska, Maria

    Patient with Phenylketonuria and Intellectual Disability—Problem Not Always Caused Exclusively by Insufficient Metabolic Control (Coexistence of PKU and Alazami Syndrome)

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    MDPI AG, 2022

    Published in: International Journal of Environmental Research and Public Health, 19 (2022) 5, Seite 2574

  4. Peregud‑Pogorzelska, Małgorzata; Kaźmierczak, Jarosław; Zielska, Małgorzata; Pobłocki, Jakub; Walczak, Mieczysław; Giżewska, Maria

    Rare indication for cardioverter‑defibrillator implantation: propionic acidemia complicated by dilated cardiomyopathy and prolonged QT interval

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    Polskie Towarzystwo Kardiologiczne, 2019

    Published in: Kardiologia Polska, 77 (2019) 5, Seite 584-585

  5. Bernstein, Laurie; Hansen, Joyanna; Kogelmann, Christian; Ellerbrok, Margret; Giżewska, Maria; Gaughan, Sommer; Rocha, Julio Cesar; Belanger-Quintana, Amaya; Rohr, Fran

    Normalizing Diet in Individuals with Phenylketonuria Treated with Pegvaliase: A Case Series and Patient Perspective

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    Informa UK Limited, 2021

    Published in: Nutrition and Dietary Supplements, Volume 13 (2021), Seite 145-154

  6. Edelheit, Oded; Hanukoglu, Israel; Gizewska, Maria; Kandemir, Nurgun; Tenenbaum‐Rakover, Yardena; Yurdakök, Murat; Zajaczek, Stanislaw; Hanukoglu, Aaron

    Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism

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    Wiley, 2005

    Published in: Clinical Endocrinology, 62 (2005) 5, Seite 547-553

  7. Giżewska, Maria; MacDonald, Anita; Bélanger-Quintana, Amaya; Burlina, Alberto; Cleary, Maureen; Coşkun, Turgay; Feillet, François; Muntau, Ania C.; Trefz, Friedrich K.; van Spronsen, Francjan J.; Blau, Nenad

    Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results

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    Springer Science and Business Media LLC, 2016

    Published in: European Journal of Pediatrics, 175 (2016) 2, Seite 261-272

  8. Domański, Maciej; Konstanty-Kurkiewicz, Violetta; Rzepka, Rafał; Rokicki, Dariusz; Giżewska, Maria; Michalczyk, Michał; Kwiatkowski, Sebastian; Torbe, Andrzej; Mikołajek-Bedner, Wioletta; Czajka, Ryszard

    Pregnancy, delivery and puerperium in a patient with lysinuric protein intolerance – a case report

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    VM Media SP. zo.o VM Group SK, 2013

    Published in: Polish Gynaecology, 84 (2013) 7

  9. Witalis, Ewa; Mikoluc, Bozena; Motkowski, Radoslaw; Sawicka-Powierza, Jolanta; Chrobot, Agnieszka; Didycz, Bozena; Lange, Agata; Mozrzymas, Renata; Milanowski, Andrzej; Nowacka, Maria; Piotrowska-Depta, Mariola; Romanowska, Hanna; Starostecka, Ewa; Wierzba, Jolanta; Skorniewska, Magdalena; Wojcicka-Bartlomiejczyk, Barbara Iwona; Gizewska, Maria; Car, Halina

    Phenylketonuria patients’ and their parents’ knowledge and attitudes to the daily diet - multi-centre study

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    Springer Science and Business Media LLC, 2017

    Published in: Nutrition & Metabolism, 14 (2017) 1

  10. Witalis, Ewa; Mikoluc, Bożena; Motkowski, Radoslaw; Szyszko, Justyna; Chrobot, Agnieszka; Didycz, Bozena; Lange, Agata; Mozrzymas, Renata; Milanowski, Andrzej; Nowacka, Maria; Piotrowska-Depta, Mariola; Romanowska, Hanna; Starostecka, Ewa; Wierzba, Jolanta; Skorniewska, Magdalena; Wojcicka-Bartlomiejczyk, Barbara Iwona; Gizewska, Maria

    Phenylketonuria patients’ and their parents’ acceptance of the disease: multi-centre study

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    Springer Science and Business Media LLC, 2016

    Published in: Quality of Life Research, 25 (2016) 11, Seite 2967-2975

  11. Mikoluc, Bozena; Motkowski, Radoslaw; Karpinska, Joanna; Amilkiewicz, Jolanta; Didycz, Bozena; Gizewska, Maria; Lange, Agata; Milanowski, Andrzej; Nowacka, Maria; Sands, Dorota; Schneiberg, Barbara; Starostecka, Ewa; Wojcicka-Bartlomiejczyk, Iwona; Piotrowska-Jastrzebska, Janina

    Impact of Lipophilic Antioxidants and Level of Antibodies Against Oxidized Low-Density Lipoprotein in Polish Children with Phenylketonuria

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    Mary Ann Liebert Inc, 2012

    Published in: Antioxidants & Redox Signaling, 16 (2012) 2, Seite 179-182

  12. Bayat, Allan; Pendziwiat, Manuela; Obersztyn, Ewa; Goldenberg, Paula; Zacher, Pia; Döring, Jan Henje; Syrbe, Steffen; Begtrup, Amber; Borovikov, Artem; Sharkov, Artem; Karasińska, Aneta; Giżewska, Maria; Mitchell, Wendy; Morava, Eva; Møller, Rikke S.; Rubboli, Guido

    Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures

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    Frontiers Media SA, 2021

    Published in: Frontiers in Genetics, 12 (2021)

  13. Bik-Multanowski, Miroslaw; Kaluzny, Lukasz; Mozrzymas, Renata; Oltarzewski, Mariusz; Starostecka, Ewa; Lange, Agata; Didycz, Bozena; Gizewska, Maria; Ulewicz-Filipowicz, Jolanta; Chrobot, Agnieszka; Mikoluc, Bozena; Szymczakiewicz-Multanowska, Agnieszka; Cichy, Wojciech; Pietrzyk, Jacek J

    Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness

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    Frontiers Media SA, 2013

    Published in: Acta Biochimica Polonica, 60 (2013) 4

  14. Łuczak, Justyna; Bagłaj, Maciej; Dryjański, Piotr; Kalcowska, Alicja; Banaszyk-Pucała, Nastazja; Boczar, Maria; Dymek, Krzysztof; Fryczek, Małgorzata; Giżewska-Kacprzak, Kaja; Górecki, Wojciech; Grabowski, Andrzej; Gregor, Anna; Jabłońska, Maria; Kowalewski, Grzegorz; Lewandowska, Magdalena; Małowiecka, Maria; Ogorzałek, Anna; Pękalska, Magdalena; Piotrowska-Gall, Aneta; Porębski, Mateusz; Siewiński, Marek; Patkowski, Dariusz

    What Should Be the Topics of a Prospective Study on Ovarian Masses in Children?—Results of a Multicenter Retrospective Study and a Scoping Literature Review

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    MDPI AG, 2022

    Published in: Current Oncology, 29 (2022) 3, Seite 1488-1500