检索结果 - Jolanta Sykut‐Cegielska

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  1. 1
    Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations

    Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations 由 Raymonda Varon, E Seemanová, Krystyńa Chrzańowska, Oleg Hnateyko, Dorota Piekutowska‐Abramczuk, Małgorzata Krajewska‐Walasek, Jolanta Sykut‐Cegielska, Karl Sperling, André Reis

    出版 2000
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  2. 2
    Retrospective, Multicentric Study of 180 Children with Cytochrome c Oxidase Deficiency

    Retrospective, Multicentric Study of 180 Children with Cytochrome c Oxidase Deficiency 由 Marek Böhm, Ewa Pronicka, Elżbieta Karczmarewicz, Maciej Pronicki, Dorota Piekutowska‐Abramczuk, Jolanta Sykut‐Cegielska, Hanna Mierzewska, Hana Hansı́ková, Kateřina Veselá, Markéta Tesařová, H Houst'ková, J Houštěk, J Zeman

    出版 2005
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  3. 3
    Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

    Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG 由 Peter Witters, Shawn Tahata, Rita Barone, Katrin Õunap, Ramona Salvarinova, Sabine Grønborg, George Hoganson, Fernando Scaglia, Andrea M. Lewis, Mari Mori, Jolanta Sykut‐Cegielska, Andrew C. Edmondson, Miao He, Éva Morava

    出版 2020
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  4. 4
    Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation

    Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation 由 Éva Morava, Dirk J. Lefeber, Zsolt Urbán, Linda De Meırleır, Peter Meinecke, G. Gillessen Kaesbach, Jolanta Sykut‐Cegielska, Michael S. Adamowicz, Ira S. Salafsky, Judith D. Ranells, Emmanuelle Lemyre, Jeroen van Reeuwijk, Han G. Brunner, Ron A. Wevers

    出版 2007
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  5. 5
    <scp>AADC</scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

    <scp>AADC</scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients 由 Toni S. Pearson, Laura Gilbert, Thomas Opladen, Ángeles García‐Cazorla, Mario Mastrangelo, Vincenzo Leuzzi, S K Tay, Jolanta Sykut‐Cegielska, Roser Pons, Saadet Mercimek‐Andrews, Mitsuhiro Kato, Thomas Lücke, Mari Oppebøen, Manju A. Kurian, Dora Steel, Filippo Manti, Kathleen D. Meeks, Kathrin Jeltsch, Lisa Flint

    出版 2020
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  6. 6
    Clinical Features of Lysosomal Acid Lipase Deficiency

    Clinical Features of Lysosomal Acid Lipase Deficiency 由 Barbara K. Burton, Patrick Deegan, Gregory M. Enns, Ornella Guardamagna, Simon Horslen, Gerard K Hovingh, Steve Lobritto, Vĕra Malinová, Valérie A. McLin, Julian Raiman, Maja Di Rocco, Saikat Santra, Reena Sharma, Jolanta Sykut‐Cegielska, Chester B. Whitley, Stephen Eckert, Vassili Valayannopoulos, Anthony G. Quinn

    出版 2015
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  7. 7
    Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

    Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing 由 Sharita Timal, Alexander Hoischen, Ludwig Lehle, Maciej Adamowicz, Karin Huijben, Jolanta Sykut‐Cegielska, Justyna Paprocka, Ewa Jamroz, Francjan J. van Spronsen, Christian Körner, Christian Gilissen, Richard J. Rodenburg, Ilse Eidhof, Lambert van den Heuvel, Christian Thiel, Ron A. Wevers, Éva Morava, Joris A. Veltman, Dirk J. Lefeber

    出版 2012
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  8. 8
    Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

    Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression 由 Samira Achouitar, Miski Mohamed, Thatjana Gardeitchik, Saskia B. Wortmann, Jolanta Sykut‐Cegielska, Regina Ensenauer, Hélène Ogier de Baulny, Katrin Õunap, Diego Martinelli, Maaike de Vries, Robert McFarland, Dorus Kouwenberg, Miranda Theodore, Frits A. Wijburg, Stephanie Grünewald, Jaak Jaeken, Ron A. Wevers, Leo Nijtmans, Joanna L. Elson, Éva Morava

    出版 2011
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  9. 9
    Impact of age at onset and newborn screening on outcome in organic acidurias

    Impact of age at onset and newborn screening on outcome in organic acidurias 由 Jana Herınger, Vassili Valayannopoulos, Allan M. Lund, Frits A. Wijburg, Peter Freisinger, Ivo Barić, Matthias R. Baumgartner, Peter Burgard, Alberto Burlina, Kimberly A. Chapman, Elisenda Cortès i Saladelafont, Daniela Karall, Chris Mühlhausen, Victoria Riches, Manuel Schiff, Jolanta Sykut‐Cegielska, John H. Walter, Jiri Zeman, B. Chabrol, Stefan Kölker

    出版 2015
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  10. 10
    Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

    Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit 由 Robert Śmigiel, Mateusz Biela, Krzysztof Szmyd, Michał Błoch, Elżbieta Szmida, Paweł Skiba, Anna Walczak, Piotr Gasperowicz, Joanna Kosińska, Małgorzata Rydzanicz, Piotr Stawiński, Anna Biernacka, Marzena Zielińska, W Gołebiowski, Agnieszka Jalowska, Grażyna Ohia, Bożena Głowska, Wojciech Walas, Barbara Królak‐Olejnik, Paweł Krajewski, Jolanta Sykut‐Cegielska, Maria Sąsiadek, Rafał Płoski

    出版 2020
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  11. 11
    The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

    The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective 由 Mohamed A. Elmonem, Amaya Bélanger-Quintana, Andrea Bordugo, Ritma Boruah, Elisenda Cortès‐Saladelafont, Mounika Endrakanti, Pilar Giraldo, Sarah C. Grünert, Neerja Gupta, Madhulika Kabra, Ina Knerr, Johannes Krämer, Alice Kuster, Elena Levtchenko, Lock Hock Ngu, M. Mar Rovira‐Remisa, Jörn Oliver Sass, Jolanta Sykut‐Cegielska, Albina Tummolo, Lambertus P. van den Heuvel

    出版 2020
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  12. 12
    Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

    Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency 由 Sunnie Wong, Lesa J. Beamer, Therese Gadomski, Tomáš Honzík, Miski Mohamed, Saskia B. Wortmann, Katja S. Brocke Holmefjord, Marit Mork, Francis Bowling, Jolanta Sykut‐Cegielska, Dieter Koch, Amanda M. Ackermann, Charles A. Stanley, Daisy Rymen, Avraham Zeharia, Moeen Al‐Sayed, Thomas P. Marquardt, Jaak Jaeken, Dirk J. Lefeber, Donald F. Conrad, Tamás Kozicz, Éva Morava

    出版 2016
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  13. 13
    SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

    SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder 由 Vincent Cantagrel, Dirk J. Lefeber, Bobby G. Ng, Ziqiang Guan, Jennifer L. Silhavy, Stephanie Bielas, Ludwig Lehle, Hans Hombauer, Maciej Adamowicz, Ewa Świeżewska, Arjan Pm de Brouwer, Peter Blümel, Jolanta Sykut‐Cegielska, Scott Houliston, Dominika Swistun, Bassam R. Ali, William B. Dobyns, Dusica Babovic‐Vuksanovic, Hans van Bokhoven, Ron A. Wevers, Christian R.H. Raetz, Hudson H. Freeze, Éva Morava, Lihadh Al‐Gazali, Joseph G. Gleeson

    出版 2010
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  14. 14
    Oral D-galactose supplementation in PGM1-CDG

    Oral D-galactose supplementation in PGM1-CDG 由 Sunnie Wong, Therese Gadomski, Monique van Scherpenzeel, Tomáš Honzík, Hana Hansíková, Katja S. Brocke Holmefjord, Marit Mork, Francis Bowling, Jolanta Sykut‐Cegielska, Dieter Koch, Jozef Hertecant, Graeme Preston, Jaak Jaeken, Nicky Peeters, Stefanie Perez, David D Nguyen, Kea Crivelly, Tim L. Emmerzaal, K. Michael Gibson, Kimiyo Raymond, Nurulamin Abu Bakar, François Foulquier, Gernot Poschet, Amanda M. Ackermann, Miao He, Dirk J. Lefeber, Christian Thiel, Tamás Kozicz, Éva Morava

    出版 2017
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  15. 15
    A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism

    A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism 由 Éva Morava, Ron A. Wevers, Vincent Cantagrel, Lies H. Hoefsloot, Lihadh Al‐Gazali, Jeroen Schoots, Arno van Rooij, Karin Huijben, Connie M. A. van Ravenswaaij-Arts, Marjolein Jongmans, Jolanta Sykut‐Cegielska, Georg F. Hoffmann, Peter Bluemel, Maciej Adamowicz, Jeroen van Reeuwijk, Bobby G. Ng, Jorieke E. H. Bergman, Hans van Bokhoven, Christian Körner, Dusica Babovic‐Vuksanovic, Michèl A.A.P. Willemsen, Joseph G. Gleeson, Ludwig Lehle, Arjan P.M. de Brouwer, Dirk J. Lefeber

    出版 2010
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  16. 16
    International consensus guidelines for phosphoglucomutase 1 deficiency (<scp>PGM1‐CDG</scp>): Diagnosis, follow‐up, and management

    International consensus guidelines for phosphoglucomutase 1 deficiency (<scp>PGM1‐CDG</scp>): Diagnosis, follow‐up, and management 由 Ruqaiah Altassan, Silvia Radenkovic, Andrew C. Edmondson, Rita Barone, Sandra Brasil, Anna Čechová, David Coman, Sarah Donoghue, Kristina Falkenstein, Vanessa dos Reis Ferreira, Carlos R. Ferreira, Agata Fiumara, Rita Francisco, Hudson H. Freeze, Stephanie Grünewald, Tomáš Honzík, Jaak Jaeken, Donna M. Krasnewich, Christina Lam, Joy Lee, Dirk J. Lefeber, Dorinda Marques‐da‐Silva, Carlota Pascoal, Dulce Quelhas, Kimiyo Raymond, Daisy Rymen, Małgorzata Seroczyńska, Mercedes Serrano, Jolanta Sykut‐Cegielska, Christian Thiel, Frederic Tort, Mari‐Anne Vals, Paula A. Videira, Nicol C. Voermans, Peter Witters, Éva Morava

    出版 2020
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  17. 17
    ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

    ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation 由 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 J. P. M. Koenen, Darius J. Adams, Julia Vodopiutz, Susanne Greber‐Platzer, Thomas Müller, Gregor Dueckers, Éva 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

    出版 2016
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  18. 18
    Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

    Multiple Phenotypes in Phosphoglucomutase 1 Deficiency 由 Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel, Bobby G. Ng, Marie‐Estelle Losfeld, Sharita Timal, Kimiyo Raymond, Ping He, Mie Ichikawa, Joris A. Veltman, Karin Huijben, Yoon S. Shin, Vandana Sharma, Maciej Adamowicz, Martin Lammens, Janine Reunert, Anika Witten, Esther Schrapers, Gert Matthijs, Jaak Jaeken, Daisy Rymen, Tanya Stojkovic, Pascal Laforêt, François Petit, O. Aumaître, E. Czarnowska, Monique Piraud, Teodor Podskarbi, Charles A. Stanley, Reuben Matalon, Patricie Burda, Soraya Seyyedi, Volker Debus, Piotr Socha, Jolanta Sykut‐Cegielska, Francjan van Spronsen, Linda De Meırleır, Pietro Vajro, Terry J. DeClue, Can Fıçıcıoğlu, Yoshinao Wada, Ron A. Wevers, Dieter Vanderschaeghe, Nico Callewaert, Ralph Fingerhut, Emile Van Schaftingen, Hudson H. Freeze, Éva Morava, Dirk J. Lefeber, Thorsten Marquardt

    出版 2014
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  19. 19
    Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

    Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes 由 Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Malak Alghamdi, Yair Anikster, Xinhua Bao, Fahad A. Bashiri, Bruria Ben Zeev, Giovanni Bisello, Ahmet Cevdet Ceylan, Yin‐Hsiu Chien, Yew Sing Choy, Sarah H. Elsea, Lisa Flint, Àngels García‐Cazorla, Charul Gijavanekar, Emel Yılmaz Gümüş, Muddathir H. Hamad, Burcu Öztürk Hişmi, Tomáš Honzík, Oya Kuseyri Hübschmann, Wuh‐Liang Hwu, Salvador Ibáñez‐Micó, Kathrin Jeltsch, Natalia Juliá‐Palacios, Çiğdem Seher Kasapkara, Manju A. Kurian, Katarzyna Kuśmierska, Ning Liu, Lock Hock Ngu, John D. Odom, Winnie Ong, Thomas Opladen, Mari Oppebøen, Phillip L. Pearl, Belén Pérez, Roser Pons, Agnieszka Magdalena Rygiel, Tan Ee Shien, Robert Spaull, Jolanta Sykut‐Cegielska, Brahim Tabarki, Trine Tangeraas, Beat Thöny, Tessa Wassenberg, Yongxin Wen, Yusnita Yakob, Jasmine Goh Chew Yin, J Zeman, Nenad Blau

    出版 2023
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  20. 20
    An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

    An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study 由 Marjan E. Steenweg, Cornelis Jakobs, Abdellatif Errami, Silvy J.M. van Dooren, Maria T. Adeva Bartolomé, Peter Aerssens, Persephone Augoustides-Savvapoulou, Ivo Barić, Matthias Baumann, Luisa Bonafé, B. Chabrol, Joe T.R. Clarke, Peter T. Clayton, Mahmut Çöker, Sarah Cooper, Tzipora C. Falik‐Zaccai, Mark Gorman, Andreas Hahn, Alev Hasanoğlu, Mary D. King, Hans B.C. de Klerk, Stanley H. Korman, Céline Lee, Allan M. Lund, Vlatka Mejaški‐Bošnjak, I Pascual-Castroviejo, Aparna Raadhyaksha, Terje Rootwelt, Agathe Roubertie, María Luz Ruiz-Falcó, Emmanuel Scalais, Ulf Schimmel, Manuel Seijo‐Martínez, Mohnish Suri, Jolanta Sykut‐Cegielska, Friedrich K. Trefz, Graziella Uziel, Vassili Valayannopoulos, Christine Vianey‐Saban, S Vlaho, Julia Vodopiutz, Moacır Wajner, John H. Walter, Claudia Walter-Derbort, Zühal Yapıcı, Dimitrios Zafeiriou, Marieke D. Spreeuwenberg, Jacopo Celli, Johan T. den Dunnen, Marjo S. van der Knaap, Gajja S. Salomons

    出版 2010
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