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 no Neurol Med Chir (Tokyo) (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 no Medicine (Baltimore) (2018)

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 no Eur J Pediatr (2015)

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 no Qual Life Res (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 no Nutr Metab (Lond) (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 no J Inherit Metab Dis (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 no Front Immunol (2020)

Molecular Investigations to Improve Diagnostic Accuracy in Patients With ARC Syndrome

Por Cullinane, Andrew R., Straatman-Iwanowska, Anna, Seo, Jeong K., Ko, Jae S., Song, Kyung S., Gizewska, Maria, Gruszfeld, Dariusz, Gliwicz, Dorota, Tuysuz, Beyhan, Erdemir, Gulin, Sougrat, Rachid, Wakabayashi, Yoshiyuki, Hinds, Rupert, Barnicoat, Angela, Mandel, Hanna, Chitayat, David, Fischler, Björn, Garcia-Cazorla, Angels, Knisely, A. S., Kelly, Deirdre A., Maher, Eamonn R., Gissen, Paul
Publicado em 2009

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 no Nat Commun (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 no J Med Genet (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 no Orphanet J Rare Dis (2018)

The Genetic Landscape and Epidemiology of Phenylketonuria

Por Hillert, Alicia, Anikster, Yair, Belanger-Quintana, Amaya, Burlina, Alberto, Burton, Barbara K., Carducci, Carla, Chiesa, Ana E., Christodoulou, John, Đorđević, Maja, Desviat, Lourdes R., Eliyahu, Aviva, Evers, Roeland A.F., Fajkusova, Lena, Feillet, François, Bonfim-Freitas, Pedro E., Giżewska, Maria, Gundorova, Polina, Karall, Daniela, Kneller, Katya, Kutsev, Sergey I., Leuzzi, Vincenzo, Levy, Harvey L., Lichter-Konecki, Uta, Muntau, Ania C., Namour, Fares, Oltarzewski, Mariusz, Paras, Andrea, Perez, Belen, Polak, Emil, Polyakov, Alexander V., Porta, Francesco, Rohrbach, Marianne, Scholl-Bürgi, Sabine, Spécola, Norma, Stojiljković, Maja, Shen, Nan, Santana-da Silva, Luiz C., Skouma, Anastasia, van Spronsen, Francjan, Stoppioni, Vera, Thöny, Beat, Trefz, Friedrich K., Vockley, Jerry, Yu, Youngguo, Zschocke, Johannes, Hoffmann, Georg F., Garbade, Sven F., Blau, Nenad
Publicado no Am J Hum Genet (2020)