Application of Original Therapy for Stimulation of Oral Areas Innervated by the Trigeminal Nerve in a Child with Beckwith–Wiedemann Syndrome

por Pawlukowska, Wioletta, Patalan, Michał, Bagińska, Ewelina, Giżewska, Maria, Masztalewicz, Marta
Publicado 2023

Expanding Cyst of the Septum Pellucidum – Endoscopic Observations on the Mechanism of Development and Results of Treatment

por SAGAN, Leszek, LIMANÓWKA, Bartosz, HERBOWSKI, Leszek, PONCYLJUSZ, Wojciech, GIŻEWSKA, Maria
Publicado 2020

Therapeutic effect of a cleft lip teat on infants with respiratory and feeding disorders: Two case reports

por Pawlukowska, Wioletta, Rychert, Monika, Urbanowicz, Ewa, Romanowska, Hanna, Rotter, Iwona, Giżewska, Maria
Publicado 2018

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

por Patalan, Michał, Leśniak, Alicja, Bernatowicz, Krzysztof, Romanowska, Hanna, Krzywińska-Zdeb, Elżbieta, Walczak, Mieczysław, Giżewska, Maria
Publicado 2022

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

por 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
Publicado 2015

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

por 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
Publicado 2021

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

por 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
Publicado 2016

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

por 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
Publicado 2017

Bone mineral density is within normal range in most adult phenylketonuria patients

por Lubout, Charlotte M. A., Blanco, Francisco Arrieta, Bartosiewicz, Katarzyna, Feillet, François, Gizewska, Maria, Hollak, Carla, van der Lee, Johanna H., Maillot, François, Stepien, Karolina M., Wagenmakers, Margreet A. E. M., Welsink‐Karssies, Mendy M., van Spronsen, Francjan J., Bosch, Annet M.
Publicado 2020

Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration

por Giżewska, Maria, Durda, Katarzyna, Winter, Theresa, Ostrowska, Iwona, Ołtarzewski, Mariusz, Klein, Jeannette, Blankenstein, Oliver, Romanowska, Hanna, Krzywińska-Zdeb, Elżbieta, Patalan, Michał Filip, Bartkowiak, Elżbieta, Szczerba, Natalia, Seiberling, Stefan, Birkenfeld, Bożena, Nauck, Matthias, von Bernuth, Horst, Meisel, Christian, Bernatowska, Ewa Anna, Walczak, Mieczysław, Pac, Małgorzata
Publicado 2020

NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study

por Sałacińska, Kinga, Pinkier, Iwona, Rutkowska, Lena, Chlebna-Sokół, Danuta, Jakubowska-Pietkiewicz, Elżbieta, Michałus, Izabela, Kępczyński, Łukasz, Salachna, Dominik, Wieczorek-Cichecka, Nina, Piotrowicz, Małgorzata, Chilarska, Tatiana, Jamsheer, Aleksander, Matusik, Paweł, Wilk, Małgorzata, Petriczko, Elżbieta, Giżewska, Maria, Stecewicz, Iwona, Walczak, Mieczysław, Rybak-Krzyszkowska, Magda, Lewiński, Andrzej, Gach, Agnieszka
Publicado 2023

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

por Docherty, Louise E., Rezwan, Faisal I., Poole, Rebecca L., Turner, Claire L. S., Kivuva, Emma, Maher, Eamonn R., Smithson, Sarah F., Hamilton-Shield, Julian P., Patalan, Michal, Gizewska, Maria, Peregud-Pogorzelski, Jaroslaw, Beygo, Jasmin, Buiting, Karin, Horsthemke, Bernhard, Soellner, Lukas, Begemann, Matthias, Eggermann, Thomas, Baple, Emma, Mansour, Sahar, Temple, I. Karen, Mackay, Deborah J. G.
Publicado 2015

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

por Begemann, Matthias, Rezwan, Faisal I, Beygo, Jasmin, Docherty, Louise E, Kolarova, Julia, Schroeder, Christopher, Buiting, Karin, Chokkalingam, Kamal, Degenhardt, Franziska, Wakeling, Emma L, Kleinle, Stephanie, González Fassrainer, Daniela, Oehl-Jaschkowitz, Barbara, Turner, Claire L S, Patalan, Michal, Gizewska, Maria, Binder, Gerhard, Bich Ngoc, Can Thi, Chi Dung, Vu, Mehta, Sarju G, Baynam, Gareth, Hamilton-Shield, Julian P, Aljareh, Sara, Lokulo-Sodipe, Oluwakemi, Horton, Rachel, Siebert, Reiner, Elbracht, Miriam, Temple, Isabel Karen, Eggermann, Thomas, Mackay, Deborah J G
Publicado 2018

Can untreated PKU patients escape from intellectual disability? A systematic review

por van Vliet, Danique, van Wegberg, Annemiek M. J., Ahring, Kirsten, Bik-Multanowski, Miroslaw, Blau, Nenad, Bulut, Fatma D., Casas, Kari, Didycz, Bozena, Djordjevic, Maja, Federico, Antonio, Feillet, François, Gizewska, Maria, Gramer, Gwendolyn, Hertecant, Jozef L., Hollak, Carla E. M., Jørgensen, Jens V., Karall, Daniela, Landau, Yuval, Leuzzi, Vincenzo, Mathisen, Per, Moseley, Kathryn, Mungan, Neslihan Ö., Nardecchia, Francesca, Õunap, Katrin, Powell, Kimberly K., Ramachandran, Radha, Rutsch, Frank, Setoodeh, Aria, Stojiljkovic, Maja, Trefz, Fritz K., Usurelu, Natalia, Wilson, Callum, van Karnebeek, Clara D., Hanley, William B., van Spronsen, Francjan J.
Publicado 2018