arrow
返回
M

Maria Giżewska

department of pediatrics

24H指数
103论文数
3.5K被引数
收录论文 34
发表时间
Clinical challenges of an Xp21 contiguous gene deletion syndrome in a newborn and 15 months of follow-up - case report
err2026-08-16
err0
errOAAI
errIF Ignacy Frulenko †; IO Iwona Ostrowska †; MP Michał Patalan; AB Aida Bertoli-Avella; NY Nayla Y. León; AP Andreia Pinto; PB Peter Bauer; AL Alicja Leśniak; DK Daria Katuszonek; MG Marta Glińska; MM Monika Modrzejewska; RŚ Robert Śmigiel; MG Maria Giżewska
err分享
err收藏
Global Use of Casein Glycomacropeptide Protein Substitutes for Phenylketonuria (PKU): Health Professional Perspectives全球使用酪蛋白糖巨肽蛋白替代品治疗苯丙酮尿症 (PKU): 健康专业人士的观点
err2026-02-02
err0
errOAAI
errSharon Evans; Rani Singh; Kirsten Ahring; Catherine Ashmore; Anne Daly; Suzanne Ford; Maria Ines Gama; Maria Giżewska; Melanie Hill; Fatma Ilgaz; Richard Jackson; Camille Newby; Alex Pinto; Martina Tosi; Ozlem Yilmaz Nas; Juri Zuvadelli; Anita MacDonald
err分享
err收藏
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension Study长期Sepiapterin治疗对苯丙酮尿症患者饮食苯丙氨酸耐受性的影响:APHENITY扩展研究III期研究的阶段性结果
err2026-01-12
err0
errOAAI
errFrancjan van Spronsen; Heidi Peters; Lali Margvelashvili; Dodo Agladze; Ida Vanessa D. Schwartz; Maria Giżewska; Takashi Hamazaki; Laura Guilder; Anita MacDonald; Suresh Vijay; Anita Inwood; Maria Minami; Olivia Fjellbirkeland; Allan Lund; Melissa Lah; Janet A. Thomas; Nicola Longo; Ertuğrul Kiykim; Mika Ishige; Alberto Burlina
err分享
err收藏
European guidelines on diagnosis and treatment of phenylketonuria: First revision欧洲苯丙酮尿症诊断与治疗指南:首次修订
err2025-06-01
err0
PREAI
errvan Wegberg, A. M. J.; MacDonald, A.; Ahring, K.; Belanger-Quintana, A.; Beblo, S.; Blau, N.; Bosch, A. M.; Burlina, A.; Campistol, J.; Coskun, T.; Feillet, F.; Gizewska, M.; Huijbregts, S. C.; Leuzzi, V.; Maillot, F.; Muntau, A. C.; Rocha, J. C.; Romani, C.; Trefz, F.; van Spronsen, F. J.
err分享
err收藏
The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks
err2025-04-02
err0
errOAAI
errDos Santos, Yann; Trefz, Friedrich; Gizewska, Maria; van Wegberg, Annemiek M. J.; Lefort, Bruno; Labarthe, Francois; van Spronsen, Francjan; Maillot, Francois
err分享
err收藏
Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia
err2024-11-01
err0
errOAAI
errSoomann, Maarja; Bily, Viktor; Elgizouli, Magdeldin; Kraemer, Dennis; Akgul, Gulfirde; von Bernuth, Horst; Bloomfield, Marketa; Brodszki, Nicholas; Candotti, Fabio; Forster-Waldl, Elisabeth; Freiberger, Tomas; Gizewska, Maria; Klocperk, Adam; Koelsch, Uwe; Nichols, Kim E.; Krueger, Renate; Oak, Ninad; Pac, Malorzata; Prader, Seraina; Schmiegelow, Kjeld; Sediva, Anna; Sogkas, Georgios; Stittrich, Anna; Stoltze, Ulrik Kristoffer; Theodoropoulou, Katerina; Wadt, Karin; Wong, Melanie; Zeyda, Maximillian; Schmid, Jana Pachlopnik; Truck, Johannes
err分享
err收藏
Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity
err2024-08-31
err0
errOAAI
errPinto, Alex; Ahring, Kirsten; Almeida, Manuela Ferreira; Ashmore, Catherine; Belanger-Quintana, Amaya; Burlina, Alberto; Coskun, Turgay; Daly, Anne; van Dam, Esther; Dursun, Ali; Evans, Sharon; Feillet, Francois; Gizewska, Maria; Gokmen-Ozel, Hulya; Hickson, Mary; Hoekstra, Yteke; Ilgaz, Fatma; Jackson, Richard; Lesniak, Alicja; Loro, Christian; Malicka, Katarzyna; Patalan, Michal; Rocha, Julio Cesar; Sivri, Serap; Rodenburg, Iris; van Spronsen, Francjan; Straczek, Kamilla; Tokatli, Aysegul; MacDonald, Anita
err分享
err收藏
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?来自欧洲2012年和2018的苯丙酮尿症患者的血苯丙氨酸水平: 这是一个变化的景观吗?
err2024-06-28
err1
errOAAI
errPinto, Alex; Ahring, Kirsten; Almeida, Manuela Ferreira; Ashmore, Catherine; Belanger-Quintana, Amaya; Burlina, Alberto; Coskun, Turgay; Daly, Anne; van Dam, Esther; Dursun, Ali; Evans, Sharon; Feillet, Francois; Gizewska, Maria; Goekmen-oezel, Hulya; Hickson, Mary; Hoekstra, Yteke; Ilgaz, Fatma; Jackson, Richard; Lesniak, Alicja; Loro, Christian; Malicka, Katarzyna; Patalan, Michal; Rocha, Julio Cesar; Sivri, Serap; Rodenburg, Iris; van Spronsen, Francjan; Straczek, Kamilla; Tokatli, Ayseguel; Macdonald, Anita
err分享
err收藏
Blood phenylalanine control in patients with phenylketonuria in Europe: is it a changing landscape?
err2024-04-01
err0
PREAI
errPinto, A.; Ahring, K.; Almeida, M. F.; Belanger-Quintana, A.; Burlina, A.; Daly, A.; van Dam, E.; Feillet, F.; Gizewska, M.; Gokmen-Ozel, H.; Hoekstra, Y.; Ilgaz, F.; Lesniak, A.; Loro, C.; Rocha, J. C.; Rodenburg, I.; van Spronsen, F.; MacDonald, A.
err分享
err收藏
Management of phenylketonuria in European PKU centres remains heterogeneous
err2024-01-01
err6
PREAI
errKirsten, Ahring; Amaya, Belanger-Quintana; Alberto, Burlina; Maria, Gizewska; Francois, Maillot; Ania, Muntau; Anne, Roscher; Anita, Macdonald
err分享
err收藏
NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study
err2023-09-22
err0
errOAAI
errSalacinska, Kinga; Pinkier, Iwona; Rutkowska, Lena; Chlebna-Sokol, Danuta; Jakubowska-Pietkiewicz, Elzbieta; Michalus, Izabela; Kepczynski, Lukasz; Salachna, Dominik; Wieczorek-Cichecka, Nina; Piotrowicz, Malgorzata; Chilarska, Tatiana; Jamsheer, Aleksander; Matusik, Pawel; Wilk, Malgorzata; Petriczko, Elzbieta; Gizewska, Maria; Stecewicz, Iwona; Walczak, Mieczyslaw; Rybak-Krzyszkowska, Magda; Lewinski, Andrzej; Gach, Agnieszka
err分享
err收藏
Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey
err2021-12-01
err9
errOAAI
errvan Wegberg, Annemiek M. J.; Trefz, Friedrich; Gizewska, Maria; Ahmed, Sibtain; Chabraoui, Layachi; Zaki, Maha S.; Maillot, Francois; van Spronsen, Francjan J.
err分享
err收藏
Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries
err2021-04-01
err1
errOAAI
errEvers, R. A. F.; van Wegberg, A. M. J.; Ahring, K.; Beblo, S.; Belanger-Quintana, A.; Bosch, A. M.; Burlina, A.; Campistol, J.; Coskun, T.; Feillet, F.; Gizewska, M.; Huijbregts, S. C. J.; Kearney, S.; Langeveld, M.; Leuzzi, V; Maillot, F.; Muntau, A. C.; Rocha, J. C.; Romani, C.; Trefz, F. K.; MacDonald, A.; van Spronsen, F. J.
err分享
err收藏
Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration
err2020-10-16
err25
errOAAI
errGizewska, Maria; Durda, Katarzyna; Winter, Theresa; Ostrowska, Iwona; Oltarzewski, Mariusz; Klein, Jeannette; Blankenstein, Oliver; Romanowska, Hanna; Krzywinska-Zdeb, Elzbieta; Patalan, Michel Filip; Bartkowiak, Elzbieta; Szczerba, Natalia; Seiberling, Stefan; Birkenfeld, Bozena; Nauck, Matthias; von Bernuth, Horst; Meisel, Christian; Bernatowska, Ewa Anna; Walczak, Mieczyslaw; Pac, Malgorzata
err分享
err收藏
PKU dietary handbook to accompany PKU guidelines (vol 15, 171, 2020)
err2020-09-01
err6
errOAAI
errMacDonald, A.; van Wegberg, A. M. J.; Ahring, K.; Beblo, S.; Belanger-Quintana, A.; Burlina, A.; Campistol, J.; Coskun, T.; Feillet, F.; Gizewska, M.; Huijbregts, S. C.; Leuzzi, V.; Maillot, F.; Muntau, A. C.; Rocha, J. C.; Romani, C.; Trefz, F.; van Spronsen, F. J.
err分享
err收藏
PKU dietary handbook to accompany PKU guidelines
err2020-08-04
err143
errOAAI
errMacDonald, A.; van Wegberg, A. M. J.; Ahring, K.; Beblo, S.; Belanger-Quintana, A.; Burlina, A.; Campistol, J.; Coskun, T.; Feillet, F.; Gizewska, M.; Huijbregts, S. C.; Leuzzi, V.; Maillot, F.; Muntau, A. C.; Rocha, J. C.; Romani, C.; Trefz, F.; van Spronsen, F. J.
err分享
err收藏
The Genetic Landscape and Epidemiology of Phenylketonuria苯丙酮尿症的遗传景观和流行病学
err2020-08-01
err202
errOAAI
errHillert, Alicia; Anikster, Yair; Belanger-Quintana, Amaya; Burlina, Alberto; Burton, Barbara K.; Carducci, Carla; Chiesa, Ana E.; Christodoulou, John; Dordevic, Maja; Desviat, Lourdes R.; Eliyahu, Aviva; Evers, Roeland A. F.; Fajkusova, Lena; Feillet, Francois; Bonfim-Freitas, Pedro E.; Gizewska, 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-Burgi, Sabine; Specola, Norma; Stojiljkovic, Maja; Shen, Nan; Santana-da Silva, Luiz C.; Skouma, Anastasia; van Spronsen, Francjan; Stoppioni, Vera; Thony, Beat; Trefz, Friedrich K.; Vockley, Jerry; Yu, Youngguo; Zschocke, Johannes; Hoffmann, Georg F.; Garbade, Sven F.; Blau, Nenad
err分享
err收藏
Rare indication for cardioverter-defibrillator implantation: propionic acidemia complicated by dilated cardiomyopathy and prolonged QT interval
err2019-05-24
err4
errOAAI
errPeregud-Pogorzelska, Malgorzata; Kazmierczak, Jaroslaw; Zielska, Malgorzata; Poblocki, Jakub; Walczak, Mieczyslaw; Gizewska, Maria
err分享
err收藏
Can untreated PKU patients escape from intellectual disability? A systematic review未经治疗的PKU患者可以摆脱智力障碍吗?一项系统综述
err2018-08-29
err37
errOAAI
errvan 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, Francois; Gizewska, Maria; Gramer, Gwendolyn; Hertecant, Jozef L.; Hollak, Carla E. M.; Jorgensen, Jens V.; Karall, Daniela; Landau, Yuval; Leuzzi, Vincenzo; Mathisen, Per; Moseley, Kathryn; Mungan, Neslihan O.; Nardecchia, Francesca; Ounap, 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.
err分享
err收藏
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
err2018-03-24
err112
errOAAI
errBegemann, Matthias; Rezwan, Faisal I.; Beygo, Jasmin; Docherty, Louise E.; Kolarova, Julia; Schroeder, Christopher; Buiting, Karin; Chokkalingam, Kamal; Degenhardt, Franziska; Wakeling, Emma L.; Kleinle, Stephanie; Fassrainer, Daniela Gonzalez; Oehl-Jaschkowitz, Barbara; Turner, Claire L. S.; Patalan, Michal; Gizewska, Maria; Binder, Gerhard; Can Thi Bich Ngoc; Vu Chi Dung; 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.
err分享
err收藏