Jolanta Sykut-Cegielska - Dissemin

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All papers authored by Jolanta Sykut-Cegielska

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2022 Aleksandra Jezela-Stanek

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, Lidia Suchoń, Agnieszka Sobczyńska-Tomaszewska, Kamila Czerska, Katarzyna Kuśmierska, Joanna Taybert

ORCID

, Mariusz Ołtarzewski, Jolanta Sykut-Cegielska

ORCID

Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population—Data Based on the National Newborn Screening Programme

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2021 Ewa Tobór-Świętek

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, Jolanta Sykut-Cegielska

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, Mirosław Bik-Multanowski

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, Mieczysław Walczak, Dariusz Rokicki

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, Łukasz Kałużny, Joanna Wierzba, Małgorzata Pac

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, Karina Jahnz-Różyk

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, Ewa Więsik-Szewczyk

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, Beata Kieć-Wilk

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COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases—Organizational Challenges from the Point of View of Healthcare Providers

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Monika Bekiesinska-Figatowska

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, Marek Duczkowski

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, Agnieszka Duczkowska

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, Joanna Taybert, Amanda Krzywdzinska

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, Jolanta Sykut-Cegielska

ORCID

Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 – case report

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Agnieszka Kowalik, Anita MacDonald, Jolanta Sykut-Cegielska

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Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria

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2020 Aleksandra Jezela-Stanek

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, Witold Blaz, Artur Gora

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, Malgorzata Bochenska, Katarzyna Kusmierska, Jolanta Sykut-Cegielska

ORCID

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene

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Mohamed A. Elmonem, Amaya Belanger-Quintana, Andrea Bordugo, Ritma Boruah, Elisenda Cortès-Saladelafont, Mounika Endrakanti, Pilar Giraldo, Sarah Catharina Grünert, Neerja Gupta, Madhulika Kabra, Ina Knerr, Johannes Krämer, Alice Kuster, Elena Levtchenko, Lock-Hock Ngu and 5 other authors

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

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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

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

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Robert Śmigiel

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, Mateusz Biela

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, Krzysztof Szmyd, Michal Błoch, Elżbieta Szmida

ORCID

ORCID

, Anna Walczak, Piotr Gasperowicz, Joanna Kosińska, Małgorzata Rydzanicz

ORCID

, 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

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, Jolanta Sykut-Cegielska

ORCID

, Antoni Pyrkosz

Coincidence of 3-methylglutaconic aciduria and duplication 5q – a case report and literature review

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Toni S. Pearson

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, Laura Gilbert, Thomas Opladen, Angeles Garcia‐Cazorla, Mario Mastrangelo, Vincenzo Leuzzi, Stacy K. H. Tay, Jolanta Sykut‐Cegielska

ORCID

, Roser Pons, Saadet Mercimek‐Andrews, Mitsuhiro Kato, Thomas Lücke, Mari Oppebøen, Manju A. Kurian, Dora Steel and 4 other authors

AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

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Peter Witters

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, Shawn Tahata, Rita Barone, Katrin Õunap, Ramona Salvarinova, Sabine Grønborg, George Hoganson, Fernando Scaglia, Andrea Margaret Lewis, Mari Mori, Jolanta Sykut-Cegielska

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, Andrew Edmondson

ORCID

, 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

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, Natella Konstandyan, Olha Zalis'ka, Jolanta Sykut-Cegielska

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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

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, Joanna Taybert

Treatment of classic phenylketonuria in Poland in the years 2009–2015 based on the database of the Polish National Health Fund

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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

ORCID

, Adam Witkowski

ORCID

, 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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Femke Molema, Florian Gleich, Peter Burgard

ORCID

, Ans T. van der Ploeg, Marshall L. Summar, Kimberly A. Chapman, Allan M. Lund

ORCID

, Dimitris Rizopoulos, Stefan Kölker, Monique Williams, F. Hörster, A. M. Jelsig, P. de Lonlay, F. A. Wijburg, A. Bosch

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and 52 other authors

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment

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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

ORCID

, Mari-Anne Vals, Luísa Diogo and 26 other authors

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients

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A. M. Jelsig, F. A. Wijburg, Nassogne Mc, P. Augoustides‐Savvopoulou, P. Freisinger, A. Bosch, Wijburg Fa, R. Posset, Femke Molema, L. de Meirleir, M. R. Baumgartner, D. Karall, P. Avram, Florian Gleich, D. Martinelli and 66 other authors

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.

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Ruqaiah Altassan, Romain Péanne, Jaak Jaeken, Rita Barone, Muad Bidet, Delphine Borgel, Sandra Brasil, David Cassiman, Anna Cechova

ORCID

, David Coman, Javier Corral, Joana Correia, María Eugenia de la Morena‐Barrio, Pascale de Lonlay, Vanessa Dos Reis and 39 other authors

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

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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

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.

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