Researcher
Jolanta Sykut-Cegielska
Instytut Matki i Dziecka
Statistics
154 papers found
All papers authored by Jolanta Sykut-Cegielska
Refreshing results…
2022
Aleksandra Jezela-Stanek 
,
Lidia Suchoń,
Agnieszka Sobczyńska-Tomaszewska,
Kamila Czerska,
Katarzyna Kuśmierska,
Joanna Taybert ,
Mariusz Ołtarzewski,
Jolanta Sykut-Cegielska
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,
Lidia Suchoń,
Agnieszka Sobczyńska-Tomaszewska,
Kamila Czerska,
Katarzyna Kuśmierska,
Joanna Taybert ,
Mariusz Ołtarzewski,
Jolanta Sykut-Cegielska
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2021
Ewa Tobór-Świętek ,
Jolanta Sykut-Cegielska ,
Mirosław Bik-Multanowski ,
Mieczysław Walczak,
Dariusz Rokicki ,
Łukasz Kałużny,
Joanna Wierzba,
Małgorzata Pac ,
Karina Jahnz-Różyk ,
Ewa Więsik-Szewczyk ,
Beata Kieć-Wilk
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,
Jolanta Sykut-Cegielska ,
Mirosław Bik-Multanowski ,
Mieczysław Walczak,
Dariusz Rokicki ,
Łukasz Kałużny,
Joanna Wierzba,
Małgorzata Pac ,
Karina Jahnz-Różyk ,
Ewa Więsik-Szewczyk ,
Beata Kieć-Wilk
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Agnieszka Kowalik,
Anita MacDonald,
Jolanta Sykut-Cegielska
Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria
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2020
Aleksandra Jezela-Stanek ,
Witold Blaz,
Artur Gora ,
Malgorzata Bochenska,
Katarzyna Kusmierska,
Jolanta Sykut-Cegielska
,
Witold Blaz,
Artur Gora ,
Malgorzata Bochenska,
Katarzyna Kusmierska,
Jolanta Sykut-Cegielska
Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene
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Cynthia Le Mons,
J. Lawrence Merritt 2nd,
Cary O. Harding,
Jennifer Seminara,
Peter Burgard,
Nicholas Ah Mew,
Gerard T. Berry,
Angeles Ruiz Gomez,
Tamar Stricker,
Derek Wong,
Jirair K. Bedoyan,
George A. Diaz,
Curtis Coughlin,
Renata C. Gallagher,
Lindsay C. Burrage
and 52 other authors
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Robert Śmigiel ,
Mateusz Biela ,
Krzysztof Szmyd,
Michal Błoch,
Elżbieta Szmida ,
Paweł Skiba ,
Anna Walczak,
Piotr Gasperowicz,
Joanna Kosińska,
Małgorzata Rydzanicz ,
Piotr Stawiński,
Anna Biernacka,
Marzena Zielińska,
Waldemar Gołębiowski,
Agnieszka Jalowska
and 8 other authors
,
Mateusz Biela ,
Krzysztof Szmyd,
Michal Błoch,
Elżbieta Szmida ,
Paweł Skiba ,
Anna Walczak,
Piotr Gasperowicz,
Joanna Kosińska,
Małgorzata Rydzanicz ,
Piotr Stawiński,
Anna Biernacka,
Marzena Zielińska,
Waldemar Gołębiowski,
Agnieszka Jalowska
and 8 other authors
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit
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Paweł Zapolnik ,
Jolanta Sykut-Cegielska ,
Antoni Pyrkosz
,
Jolanta Sykut-Cegielska ,
Antoni Pyrkosz
Coincidence of 3-methylglutaconic aciduria and duplication 5q – a case report and literature review
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Toni S. Pearson ,
Laura Gilbert,
Thomas Opladen,
Angeles Garcia‐Cazorla,
Mario Mastrangelo,
Vincenzo Leuzzi,
Stacy K. H. Tay,
Jolanta Sykut‐Cegielska ,
Roser Pons,
Saadet Mercimek‐Andrews,
Mitsuhiro Kato,
Thomas Lücke,
Mari Oppebøen,
Manju A. Kurian,
Dora Steel
and 4 other authors
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,
Laura Gilbert,
Thomas Opladen,
Angeles Garcia‐Cazorla,
Mario Mastrangelo,
Vincenzo Leuzzi,
Stacy K. H. Tay,
Jolanta Sykut‐Cegielska ,
Roser Pons,
Saadet Mercimek‐Andrews,
Mitsuhiro Kato,
Thomas Lücke,
Mari Oppebøen,
Manju A. Kurian,
Dora Steel
and 4 other authors
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Peter Witters ,
Shawn Tahata,
Rita Barone,
Katrin Õunap,
Ramona Salvarinova,
Sabine Grønborg,
George Hoganson,
Fernando Scaglia,
Andrea Margaret Lewis,
Mari Mori,
Jolanta Sykut-Cegielska ,
Andrew Edmondson ,
Miao He,
Eva Morava
,
Shawn Tahata,
Rita Barone,
Katrin Õunap,
Ramona Salvarinova,
Sabine Grønborg,
George Hoganson,
Fernando Scaglia,
Andrea Margaret Lewis,
Mari Mori,
Jolanta Sykut-Cegielska ,
Andrew Edmondson ,
Miao He,
Eva Morava
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG
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Marcin Czech,
Aleksandra Baran-Kooiker,
Kagan Atikeler,
Maria Demirtshyan,
Kamilla Gaitova,
Malwina Holownia-Voloskova,
Adina Turcu-Stiolica,
Coen Kooiker,
Oresta Piniazhko ,
Natella Konstandyan,
Olha Zalis'ka,
Jolanta Sykut-Cegielska
,
Natella Konstandyan,
Olha Zalis'ka,
Jolanta Sykut-Cegielska
A Review of Rare Disease Policies and Orphan Drug Reimbursement Systems in 12 Eurasian Countries
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Agnieszka Szypowska,
Edward Franek,
Władysław J. Grzeszczak,
Mariusz Zięba,
Winicjusz Filipow,
Paweł Kabicz,
Barbara Więckowska,
Jolanta Sykut-Cegielska ,
Joanna Taybert
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,
Joanna Taybert
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2019
Michał Nowicki,
Stanisława Bazan-Socha,
Beata Błażejewska-Hyzorek,
Ryszard Gellert,
Jacek Imiela,
Jarosław Kaźmierczak,
Mariusz Kłopotowski,
Zofia Oko-Sarnowska,
Krzysztof Pawlaczyk,
Piotr Ponikowski,
Jarosław Sławek,
Jolanta Sykut-Cegielska ,
Adam Witkowski ,
Danuta Zwolińska
,
Adam Witkowski ,
Danuta Zwolińska
Enzyme replacement therapy in Fabry disease in Poland – position statement
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Roland Posset,
Elisa Leão Teles,
Andrea L. Gropman,
Brendan Lee,
Stefan Kölker,
Gregory Enns,
Cary O. Harding,
Angeles Garcia‐Cazorla,
Cynthia Le Mons,
Sandesh Cs S. Nagamani,
Greta N. Wilkening,
Peter Burgard,
Dries Dobbelaere,
Ivo Barić,
Jana Heringer
and 31 other authors
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
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Hilary Vallance,
Dagmar Loorits,
Michelle Demos,
Qiang Zeng,
Angel Ashikov,
Lars Mørkrid,
Rita Barone,
Pilvi Ilves,
Dulce Quelhas,
Karin Huijben,
Kimiyo Raymond,
Pasquale Striano,
Jolanta Sykut-Cegielska ,
Mari-Anne Vals,
Luísa Diogo
and 26 other authors
,
Mari-Anne Vals,
Luísa Diogo
and 26 other authors
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients
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Nassogne Mc,
P. Augoustides‐Savvopoulou,
Femke Molema,
Wijburg Fa,
A. M. Jelsig,
Florian Gleich,
F. A. Wijburg,
Peter Burgard,
A. Bosch,
P. Freisinger,
R. Posset,
Ans T. van der Ploeg,
P. de Lonlay,
Marshall L. Summar,
P. Avram
and 66 other authors
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Ruqaiah Altassan,
Romain Péanne,
Jaak Jaeken,
Rita Barone,
Muad Bidet,
Delphine Borgel,
Sandra Brasil,
David Cassiman,
Anna Cechova ,
David Coman,
Javier Corral,
Joana Correia,
María Eugenia de la Morena‐Barrio,
Pascale de Lonlay,
Vanessa Dos Reis
and 39 other authors
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,
David Coman,
Javier Corral,
Joana Correia,
María Eugenia de la Morena‐Barrio,
Pascale de Lonlay,
Vanessa Dos Reis
and 39 other authors
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Roland Posset,
Sven F. Garbade,
L. de Meirleir,
Alberto B. Burlina,
Nikolas Boy,
Garbade Sf,
Elisa Leão Teles,
Nicholas Ah Mew,
Mark L. Batshaw,
Dries Dobbelaere,
Matthias R. Baumgartner,
N. Ah Mew,
Shawn E. McCandless,
Jennifer Seminara,
Marshall Summar
and 69 other authors
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