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• TBC1D24 mutations- opening the DOORS to the associated syndromes

  Kacper Szada-Borzyszkowski, Konstancja Owczarenko

  68514

  2026-02-06
• Impact of Usher syndrome on athletic performance - navigating silence and darkness

  Mateusz Rosiński, Kamila Rosińska, Julia Natalia Łojewska, Ewelina Justyna Janicka , Agnieszka Perko , Monika Niedźwiedzka, Oliwia Bochenek , Agata Andrzejczyk

  54714

  2024-10-07
• Cystic Fibrosis: A Review of Current Knowledge, Treatment Methods and Diagnostics

  Natalia Wdowiak, Martyna Choinka, Agata Konopka, Zuzanna Szczepaniak, Kinga Adamska, Aleksandra Kaczmarek

  55065

  2024-09-30
• Nijmegen breakage Syndrome - how much do we know about this rare condition of Slavs? - disease overview

  Adrianna Muciek, Martyna Mocarska, Anna Orłowska, Katarzyna Strakowska, Laura Opalska, Anna Maryńczak, Jan Mencel, Nicole Nitschke

  56216

  2024-11-27
• Gaucher's disease - a review of the most important information about the disease in Paediatrics

  Jakub Jarmołowicz, Paulina Krzeszowska, Aleksandra Kujawa, Karolina Krochmal, Adrianna Samoraj, Jakub Zajączkowski, Karolina Marrodán-Wojtczak, Jan Wilk, Kacper Stępniak, Radosław Kuźma

  61358

  2025-07-12
• Wilson’s disease: A Comprehensive Review of Genetics, Pathophysiology, Clinical Symptoms, Diagnostic Techniques and Current Treatment

  Natalia Wdowiak, Martyna Choinka, Agata Konopka, Zuzanna Szczepaniak, Kinga Adamska

  55417

  2024-10-25
• Clinical Spectrum, Diagnosis, and Management of TANGO2 Deficiency Disorder: A Comprehensive Review

  Marcin Dołęga, Piotr Gacka, Olgierd Dróżdż, Joanna Gołda, Julia Mężyk, Aleksandra Snopkowska

  54001

  2024-08-28
• Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency epidemiology, etiopathogenesis, clinical presentation, treatment – a systematic review

  Adrianna Babik, Kamila Kamińska, Matylda Będkowska-Kuśmierek, Anna Złotnik, Kinga Anna Krzysztofik, Antoni Klamka, Paulina Kawalec, Kamil Bronikowski, Maksymilian Ryszkowski, Krystian Fornal

  72649

  2026-06-14
• Gaucher disease – a comprehensive review of clinical characteristics, diagnostic algorythms and current therapies

  Alicja Kotula, Natalia Kucy, Adrianna Czachor, Paula Kula, Mateusz Haber, Olga Grelewicz, Elwira Servaas, Adam Juśkiewicz, Alicja Pilcicka

  54859

  2024-10-14
• Clinical and Genetic Aspects of Pompe Disease: A Review of Current Knowledge

  Agata Konopka, Milena Sitkiewicz, Zuzanna Szczepaniak, Natalia Wdowiak, Kinga Adamska

  53989

  2024-08-22
• Systemic effects of CFTR modulator therapy in cystic fibrosis: implications for organ function and quality of life

  Justyna Fiks, Marta Zdunek, Maciej Stodulski, Anna Bulicz, Izabela Kasprzycka, Monika Kukla, Olga Kowalczyk, Joanna Dziarnowska, Sebastian Kozłowski, Izabela Kmiecik

  72451

  2026-06-14
• Crigler-Najjar Syndrome - current state of knowledge, overview of etiology, symptoms, diagnosis and treatment methods

  Jakub Wawrzkowicz; Monika Korga, Paweł Pawlik, Przemysław Zaroda, Paweł Dąda, Patrycja Niewinna, Michał Żuchowski, Dominika Mańdziuk, Klaudia Kołodziej, Wojciech Kołodziej

  51825

  2024-07-05
• Wilson’s disease - a current approach to diagnostics and treatment. A literature review

  Gabriela Licak, Paulina Bętkowska, Paweł Olko, Magda Żuchnik, Agnieszka Rybkowska, Julia Tomkiewicz, Jakub Radulski, Piotr Sałata, Paulina Szczuraszek, Hugo Szczuraszek

  63-70

  2023-01-27
• Type 1 Diabetes: An In-Depth Review of Pathogenesis with a Focus on the Role of Physical Activity and Dietary Interventions

  Agata Konopka, Weronika Smołka, Marcin Skrzypczyk, Leon Smółka

  54238

  2024-09-01