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AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients
Pearson, Toni S, Gilbert, Laura, Opladen, Thomas, Garcia-Cazorla, Angeles, Mastrangelo, Mario, Leuzzi, Vincenzo, Tay, Stacy K H, Sykut-Cegielska, Jolanta, Pons, Roser, Mercimek-Andrews, Saadet, Kato, Mitsuhiro, Lücke, Thomas, Oppebøen, Mari, Kurian, Manju A, Steel, Dora, Manti, Filippo, Meeks, Kathleen D, Jeltsch, Kathrin, Flint, Lisa
Published in Journal of Inherited Metabolic Disease (01.09.2020)
Published in Journal of Inherited Metabolic Disease (01.09.2020)
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Journal Article
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management
Altassan, Ruqaiah, Radenkovic, Silvia, Edmondson, Andrew C., Barone, Rita, Brasil, Sandra, Cechova, Anna, Coman, David, Donoghue, Sarah, Falkenstein, Kristina, Ferreira, Vanessa, Ferreira, Carlos, Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Grunewald, Stephanie, Honzik, Tomas, Jaeken, Jaak, Krasnewich, Donna, Lam, Christina, Lee, Joy, Lefeber, Dirk, Marques‐da‐Silva, Dorinda, Pascoal, Carlota, Quelhas, Dulce, Raymond, Kimiyo M., Rymen, Daisy, Seroczynska, Malgorzata, Serrano, Mercedes, Sykut‐Cegielska, Jolanta, Thiel, Christian, Tort, Frederic, Vals, Mari‐Anne, Videira, Paula, Voermans, Nicol, Witters, Peter, Morava, Eva
Published in Journal of inherited metabolic disease (01.01.2021)
Published in Journal of inherited metabolic disease (01.01.2021)
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Journal Article
Clinical Features of Lysosomal Acid Lipase Deficiency
Burton, Barbara K., Deegan, Patrick B., Enns, Gregory M., Guardamagna, Ornella, Horslen, Simon, Hovingh, Gerard K., Lobritto, Steve J., Malinova, Vera, McLin, Valerie A., Raiman, Julian, Di Rocco, Maja, Santra, Saikat, Sharma, Reena, Sykut‐Cegielska, Jolanta, Whitley, Chester B., Eckert, Stephen, Valayannopoulos, Vassili, Quinn, Anthony G.
Published in Journal of pediatric gastroenterology and nutrition (01.12.2015)
Published in Journal of pediatric gastroenterology and nutrition (01.12.2015)
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Journal Article
Impact of age at onset and newborn screening on outcome in organic acidurias
Heringer, Jana, Valayannopoulos, Vassili, Lund, Allan M., Wijburg, Frits A., Freisinger, Peter, Barić, Ivo, Baumgartner, Matthias R., Burgard, Peter, Burlina, Alberto B., Chapman, Kimberly A., i Saladelafont, Elisenda Cortès, Karall, Daniela, Mühlhausen, Chris, Riches, Victoria, Schiff, Manuel, Sykut-Cegielska, Jolanta, Walter, John H., Zeman, Jiri, Chabrol, Brigitte, Kölker, Stefan
Published in Journal of inherited metabolic disease (01.05.2016)
Published in Journal of inherited metabolic disease (01.05.2016)
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Journal Article
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG
Witters, Peter, Tahata, Shawn, Barone, Rita, Õunap, Katrin, Salvarinova, Ramona, Grønborg, Sabine, Hoganson, George, Scaglia, Fernando, Lewis, Andrea Margaret, Mori, Mari, Sykut-Cegielska, Jolanta, Edmondson, Andrew, He, Miao, Morava, Eva
Published in Genetics in medicine (01.06.2020)
Published in Genetics in medicine (01.06.2020)
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Journal Article
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role
Bisello, Giovanni, Kusmierska, Katarzyna, Verbeek, Marcel M., Sykut–Cegielska, Jolanta, Willemsen, Michèl A. A. P., Wevers, Ron A., Szymańska, Krystyna, Poznanski, Jarosław, Drozak, Jakub, Wertheim–Tysarowska, Katarzyna, Rygiel, Agnieszka Magdalena, Bertoldi, Mariarita
Published in Cellular and molecular life sciences : CMLS (01.06.2022)
Published in Cellular and molecular life sciences : CMLS (01.06.2022)
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Journal Article
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing
Timal, Sharita, Hoischen, Alexander, Lehle, Ludwig, Adamowicz, Maciej, Huijben, Karin, Sykut-Cegielska, Jolanta, Paprocka, Justyna, Jamroz, Ewa, van Spronsen, Francjan J., Körner, Christian, Gilissen, Christian, Rodenburg, Richard J., Eidhof, Ilse, Van den Heuvel, Lambert, Thiel, Christian, Wevers, Ron A., Morava, Eva, Veltman, Joris, Lefeber, Dirk J.
Published in Human molecular genetics (01.10.2012)
Published in Human molecular genetics (01.10.2012)
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Journal Article
Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations
Holubova, Veronika, Barone, Rita, Grunewald, Stephanie, Tesařová, Markéta, Hansíková, Hana, Augustínová, Jana, Sykut‐Cegielska, Jolanta, De Nictolis, Francesca, Diaz‐Moreno, Unai, Elangovan, Ramyia, Epifani, Florencia, Gasperini, Serena, Jansen, Mirian, Lefeber, Dirk, Maksym‐Gasiorek, Dorota, Diego, Martinelli, Ounap, Katrin, Pettinato, Fabio, Põder, Haide, Rymen, Daisy, Vals, Mari‐Anne, Serrano, Mercedes, Witters, Peter, Honzík, Tomáš
Published in Journal of inherited metabolic disease (01.01.2025)
Published in Journal of inherited metabolic disease (01.01.2025)
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Journal Article
Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey
Neugebauer, Julia, Reinson, Karit, Bellusci, Marcello, Park, Julien H., Hikmat, Omar, Bertini, Enrico, Schiff, Manuel, Ardissone, Anna, Darin, Niklas, Darling, Alejandra, Diodato, Daria, Diogo, Luisa, Kristensen, Erle, Kieć‐Wilk, Beata, Macário, Maria Carmo, Martinelli, Diego, Messina, Martina, O'Callaghan, Mar, Ortigoza‐Escobar, Juan Darío, Paiva Coelho, Margarida, Pías, Leticia, Sykut‐Cegielska, Jolanta, Vanlander, Arnaud, Rahman, Shamima
Published in Journal of inherited metabolic disease (01.01.2025)
Published in Journal of inherited metabolic disease (01.01.2025)
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Journal Article
Oral D-galactose supplementation in PGM1-CDG
Wong, Sunnie Yan-Wai, Gadomski, Therese, van Scherpenzeel, Monique, Honzik, Tomas, Hansikova, Hana, Holmefjord, Katja S Brocke, Mork, Marit, Bowling, Francis, Sykut-Cegielska, Jolanta, Koch, Dieter, Hertecant, Jozef, Preston, Graeme, Jaeken, Jaak, Peeters, Nicole, Perez, Stefanie, Nguyen, David Do, Crivelly, Kea, Emmerzaal, Tim, Gibson, K Michael, Raymond, Kimiyo, Abu Bakar, Nurulamin, Foulquier, Francois, Poschet, Gernot, Ackermann, Amanda M, He, Miao, Lefeber, Dirk J, Thiel, Christian, Kozicz, Tamas, Morava, Eva
Published in Genetics in medicine (01.11.2017)
Published in Genetics in medicine (01.11.2017)
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Journal Article
Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria
Kowalik, Agnieszka, MacDonald, Anita, Sykut-Cegielska, Jolanta
Published in Medicina (Kaunas, Lithuania) (02.02.2021)
Published in Medicina (Kaunas, Lithuania) (02.02.2021)
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Journal Article
A Review of Rare Disease Policies and Orphan Drug Reimbursement Systems in 12 Eurasian Countries
Czech, Marcin, Baran-Kooiker, Aleksandra, Atikeler, Kagan, Demirtshyan, Maria, Gaitova, Kamilla, Holownia-Voloskova, Malwina, Turcu-Stiolica, Adina, Kooiker, Coen, Piniazhko, Oresta, Konstandyan, Natella, Zalis'ka, Olha, Sykut-Cegielska, Jolanta
Published in Frontiers in public health (28.01.2020)
Published in Frontiers in public health (28.01.2020)
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Journal Article
Health and well‐being of maturing adults with classic galactosemia
Garrett, Olivia S., Druss, Jared J., Vos, E. Naomi, Fu, Yu‐Ting Debbie, Lucia, Stephanie, Greenstein, Patricia E., Bauer, Anna, Sykut‐Cegielska, Jolanta, Stepien, Karolina M., Arbuckle, Cameron, Grafakou, Olga, Meyer, Uta, Vanhoutvin, Nele, Pané, Adriana, Bosch, Annet M., Rubio‐Gozalbo, Estela, Berry, Gerard T., Fridovich‐Keil, Judith L.
Published in Journal of inherited metabolic disease (01.01.2025)
Published in Journal of inherited metabolic disease (01.01.2025)
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Journal Article
SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Cantagrel, Vincent, Lefeber, Dirk J., Ng, Bobby G., Guan, Ziqiang, Silhavy, Jennifer L., Bielas, Stephanie L., Lehle, Ludwig, Hombauer, Hans, Adamowicz, Maciej, Swiezewska, Ewa, De Brouwer, Arjan P., Blümel, Peter, Sykut-Cegielska, Jolanta, Houliston, Scott, Swistun, Dominika, Ali, Bassam R., Dobyns, William B., Babovic-Vuksanovic, Dusica, van Bokhoven, Hans, Wevers, Ron A., Raetz, Christian R.H., Freeze, Hudson H., Morava, Éva, Al-Gazali, Lihadh, Gleeson, Joseph G.
Published in Cell (23.07.2010)
Published in Cell (23.07.2010)
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Journal Article
Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 – case report
Bekiesinska-Figatowska, Monika, Duczkowski, Marek, Duczkowska, Agnieszka, Taybert, Joanna, Krzywdzinska, Amanda, Sykut-Cegielska, Jolanta
Published in BMC pediatrics (27.03.2021)
Published in BMC pediatrics (27.03.2021)
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Journal Article
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
Kožich, Viktor, Schwahn, Bernd C, Sokolová, Jitka, Křížková, Michaela, Ditroi, Tamas, Krijt, Jakub, Khalil, Youssef, Křížek, Tomáš, Vaculíková-Fantlová, Tereza, Stibůrková, Blanka, Mills, Philippa, Clayton, Peter, Barvíková, Kristýna, Blessing, Holger, Sykut-Cegielska, Jolanta, Dionisi-Vici, Carlo, Gasperini, Serena, García-Cazorla, Ángeles, Haack, Tobias B, Honzík, Tomáš, Ješina, Pavel, Kuster, Alice, Laugwitz, Lucia, Martinelli, Diego, Porta, Francesco, Santer, René, Schwarz, Guenter, Nagy, Peter
Published in Redox biology (01.12.2022)
Published in Redox biology (01.12.2022)
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Journal Article
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit
Śmigiel, Robert, Biela, Mateusz, Szmyd, Krzysztof, Błoch, Michal, Szmida, Elżbieta, Skiba, Paweł, Walczak, Anna, Gasperowicz, Piotr, Kosińska, Joanna, Rydzanicz, Małgorzata, Stawiński, Piotr, Biernacka, Anna, Zielińska, Marzena, Gołębiowski, Waldemar, Jalowska, Agnieszka, Ohia, Grażyna, Głowska, Bożena, Walas, Wojciech, Królak-Olejnik, Barbara, Krajewski, Paweł, Sykut-Cegielska, Jolanta, Sąsiadek, Maria M., Płoski, Rafał
Published in Journal of clinical medicine (13.07.2020)
Published in Journal of clinical medicine (13.07.2020)
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Journal Article
An Investigation of the Neurological and Neuropsychiatric Disturbances in Adults with Undiagnosed and/or Untreated Phenylketonuria in Poland
Mazur, Artur, Jarochowicz, Sabina, Ołtarzewski, Mariusz, Sykut-Cegielska, Jolanta, Gradowska, Wanda, Januszek-Trzciąkowska, Aleksandra, O'Malley, Grace, Kwolek, Andrzej
Published in Journal of applied research in intellectual disabilities (01.09.2011)
Published in Journal of applied research in intellectual disabilities (01.09.2011)
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Journal Article
Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients
Vals, Mari‐Anne, Ashikov, Angel, Ilves, Pilvi, Loorits, Dagmar, Zeng, Qiang, Barone, Rita, Huijben, Karin, Sykut‐Cegielska, Jolanta, Diogo, Luísa, Elias, Abdallah F., Greenwood, Robert S., Grunewald, Stephanie, van Hasselt, Peter M., van de Kamp, Jiddeke M., Mancini, Grazia, Okninska, Agnieszka, Pajusalu, Sander, Rudd, Pauline M., Rustad, Cecilie F., Salvarinova, Ramona, de Vries, Bert B.A., Wolf, Nicole I., Ng, Bobby G., Freeze, Hudson H., Lefeber, Dirk J., Õunap, Katrin
Published in Journal of inherited metabolic disease (01.05.2019)
Published in Journal of inherited metabolic disease (01.05.2019)
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Journal Article