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

by Agnieszka Kowalik, Anita MacDonald, Jolanta Sykut-Cegielska
Published 2021-02-01

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the <i>MOSC2</i> Gene

by Aleksandra Jezela-Stanek, Witold Blaz, Artur Gora, Malgorzata Bochenska, Katarzyna Kusmierska, Jolanta Sykut-Cegielska
Published 2020-10-01

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

by Monika Bekiesinska-Figatowska, Marek Duczkowski, Agnieszka Duczkowska, Joanna Taybert, Amanda Krzywdzinska, Jolanta Sykut-Cegielska
Published 2021-03-01

The genetic basis of classical galactosaemia in Polish patients

by Aleksandra Jezela-Stanek, Anna Bauer, Katarzyna Wertheim-Tysarowska, Jerzy Bal, Agnieszka Magdalena Rygiel, Jolanta Sykut-Cegielska
Published 2021-05-01

Patient's weight can decide about spending millions on enzyme replacement therapy in MPS II

by Miroslaw Bik-Multanowski, Ewa Jamroz, Lukasz Kaluzny, Ewa Pronicka, Dariusz Rokicki, Ewa Starostecka, Jolanta Sykut-Cegielska, Mieczyslaw Walczak
Published 2016-03-01

A Review of Rare Disease Policies and Orphan Drug Reimbursement Systems in 12 Eurasian Countries

by Marcin Czech, Aleksandra Baran-Kooiker, Kagan Atikeler, Kagan Atikeler, Maria Demirtshyan, Kamilla Gaitova, Malwina Holownia-Voloskova, Malwina Holownia-Voloskova, Adina Turcu-Stiolica, Coen Kooiker, Oresta Piniazhko, Natella Konstandyan, Olha Zalis'ka, Jolanta Sykut-Cegielska
Published 2020-01-01

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

by 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, Grażyna Ohia, Bożena Głowska, Wojciech Walas, Barbara Królak-Olejnik, Paweł Krajewski, Jolanta Sykut-Cegielska, Maria M. Sąsiadek, Rafał Płoski
Published 2020-07-01

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

by Eric J. R. Jansen, Sharita Timal, Margret Ryan, Angel Ashikov, Monique van Scherpenzeel, Laurie A. Graham, Hanna Mandel, Alexander Hoischen, Theodore C. Iancu, Kimiyo Raymond, Gerry Steenbergen, Christian Gilissen, Karin Huijben, Nick H. M. van Bakel, Yusuke Maeda, Richard J. Rodenburg, Maciej Adamowicz, Ellen Crushell, Hans Koenen, Darius Adams, Julia Vodopiutz, Susanne Greber-Platzer, Thomas Müller, Gregor Dueckers, Eva Morava, Jolanta Sykut-Cegielska, Gerard J. M. Martens, Ron A. Wevers, Tim Niehues, Martijn A. Huynen, Joris A. Veltman, Tom H. Stevens, Dirk J. Lefeber
Published 2016-05-01