المؤلفون: Patryk Lipiński, Maja Klaudel-Dreszler, Elzbieta Ciara, Dorota Jurkiewicz, Rafał Płoski, Joanna Cielecka-Kuszyk, Piotr Socha, Irena Jankowska

المصدر: Frontiers in Pediatrics, Vol 8 (2021)

مصطلحات موضوعية: neonatal cholestasis, sterol 27-hydroxylase (CYP27A1), next-generation sequencing, chenodeoxycholic acid (CDCA), liver transplantation, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2020.616582/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/4272449ac4234b1d94a437d7295a9b37

المؤلفون: Aleksandra Jezela-Stanek, Marzena Kucharczyk, Katarzyna Falana, Dorota Jurkiewicz, Marlena Mlynek, Dorota Wicher, Malgorzata Rydzanicz, Monika Kugaudo, Agata Cieslikowska, Elzbieta Ciara, Rafal Ploski, Malgorzata Krajewska-Walasek

المصدر: Biomedical Papers, Vol 160, Iss 1, Pp 161-167 (2016)

مصطلحات موضوعية: malan syndrome, sotos syndrome 2, nfix gene, 19p13.2 deletion, nfix mutation, Medicine

وصف الملف: electronic resource

Relation: https://biomed.papers.upol.cz/artkey/bio-201601-0024_Malan_syndrome_Sotos_syndrome_2_in_two_patients_with_19p13_2_deletion_encompassing_NFIX_gene_and_novel_NFIX_s.php; https://doaj.org/toc/1213-8118; https://doaj.org/toc/1804-7521

URL الوصول: https://doaj.org/article/00a51cc40d5848598367f934403563da

المؤلفون: Edyta Szymanska, Malgorzata Sredzinska, Elzbieta Ciara, Dorota Piekutowska-Abramczuk, Rafal Ploski, Dariusz Rokicki, Anna Tylki-Szymanska

المصدر: Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 48-50 (2015)

مصطلحات موضوعية: Tyrosinemia type III, Tyrosine metabolism, HPD gene, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426915300392; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/f1b89d0142994cadbdf5a3c176ebd958

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المؤلفون: Georg F. Vogel, Yael Mozer-Glassberg, Yuval E. Landau, Lea D. Schlieben, Holger Prokisch, René G. Feichtinger, Johannes A. Mayr, Heiko Brennenstuhl, Julian Schröter, Agnes Pechlaner, Fowzan S. Alkuraya, Joshua J. Baker, Giulia Barcia, Ivo Baric, Nancy Braverman, Birute Burnyte, John Christodoulou, Elzbieta Ciara, David Coman, Anibh M. Das, Niklas Darin, Adela Della Marina, Felix Distelmaier, Erik A. Eklund, Melike Ersoy, Weiyan Fang, Pauline Gaignard, Rebecca D. Ganetzky, Emmanuel Gonzales, Caoimhe Howard, Joanne Hughes, Vassiliki Konstantopoulou, Melis Kose, Marina Kerr, Aneal Khan, Dominic Lenz, Robert McFarland, Merav Gil Margolis, Kevin Morrison, Thomas Müller, Kei Murayama, Emanuele Nicastro, Alessandra Pennisi, Heidi Peters, Dorota Piekutowska-Abramczuk, Agnès Rötig, René Santer, Fernando Scaglia, Manuel Schiff, Mohmmad Shagrani, Mark Sharrard, Claudia Soler-Alfonso, Christian Staufner, Imogen Storey, Michael Stormon, Robert W. Taylor, David R. Thorburn, Elisa Leao Teles, Jian-She Wang, Daniel Weghuber, Saskia Wortmann

المصدر: Genetics in Medicine, 25, 6
Genet. Med., 100314 (2022)
Genetics in Medicine, 25

مصطلحات موضوعية: Treatment, Liver transplantation, Acute Liver Failure, Cysteine, Liver Transplantation, Mitochondrial Disease, All institutes and research themes of the Radboud University Medical Center, Acute liver failure, Mitochondrial disease, Reversible, Medizin, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34d2d162b7b4a0245f739ac55e7b742a
https://doi.org/10.1016/j.gim.2022.09.015

المؤلفون: Hannah, Hayhurst, Irenaeus F M, de Coo, Dorota, Piekutowska-Abramczuk, Charlotte L, Alston, Sunil, Sharma, Kyle, Thompson, Rocio, Rius, Langping, He, Sila, Hopton, Rafal, Ploski, Elzbieta, Ciara, Nicole J, Lake, Alison G, Compton, Martin B, Delatycki, Aad, Verrips, Penelope E, Bonnen, Simon A, Jones, Andrew A, Morris, David, Shakespeare, John, Christodoulou, Dorota, Wesol-Kucharska, Dariusz, Rokicki, Hubert J M, Smeets, Ewa, Pronicka, David R, Thorburn, Grainne S, Gorman, Robert, McFarland, Robert W, Taylor, Yi Shiau, Ng

المصدر: Annals of Clinical and Translational Neurology

مصطلحات موضوعية: Hydroxymethyl and Formyl Transferases, Male, Mitochondrial Diseases, Adolescent, Biopsy, Infant, Newborn, Infant, Fibroblasts, Prognosis, Mitochondria, Cohort Studies, Mitochondrial Proteins, Child, Preschool, Genomic Structural Variation, Mutation, Humans, Female, Leigh Disease, Erratum, Child, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::2cc9b423544ca3b4a32ed517a409765a
https://pubmed.ncbi.nlm.nih.gov/31020008

المؤلفون: Dorota Wesół-Kucharska, Milena Greczan, Magdalena Kaczor, Ewa Ehmke vel Emczyńska-Seliga, Małgorzata Hajdacka, Edyta Czekuć-Kryśkiewicz, Dorota Piekutowska-Abramczuk, Paulina Halat-Wolska, Elżbieta Ciara, Maciej Jaworski, Aleksandra Jezela-Stanek, Dariusz Rokicki

المصدر: Nutrients, Vol 16, Iss 6, p 812 (2024)

مصطلحات موضوعية: mitochondrial diseases, ketogenic diet, IPMDS, nDNA, mtDNA, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6643/16/6/812; https://doaj.org/toc/2072-6643

URL الوصول: https://doaj.org/article/b027d73eaeb945ce9c4ac21af7e5019c

المؤلفون: Magdalena Kaczor, Milena Greczan, Karolina Kierus, Ewa Ehmke vel Emczyńska‐Seliga, Elżbieta Ciara, Barbara Piątosa, Dariusz Rokicki, Janusz Książyk, Dorota Wesół‐Kucharska

المصدر: JIMD Reports, Vol 63, Iss 3, Pp 199-206 (2022)

مصطلحات موضوعية: empagliflozin, G‐CSF, GSD 1b, neutropenia, SGLT2 inhibitor, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/7b1d9a5cd1ba434da70d48b846a85109

المؤلفون: Vicente A. Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, Maja Hempel, Yulia S. Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana D. Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela F. Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L. Stenton, Tim M. Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A. Mayr, Dorota Piekutowska-Abramczuk, Antonia Ribes, Agnès Rötig, Robert W. Taylor, Saskia B. Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-26 (2022)

مصطلحات موضوعية: RNA-seq, Genetic diagnostics, Mendelian diseases, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/c84ca93f6ba94f7fa60fa360f03b6d83

المؤلفون: Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, Maciej Pronicki, Elżbieta Jurkiewicz, Anna Bogdańska, Rafał Płoski, Irena Jankowska

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: adenosine kinase, adenosine kinase deficiency, liver transplantation, S-adenosyl homocysteine, S-adenosylmethionine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.1061043/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/fcbd64df5adf4defb90d4f6a0510d73d