المؤلفون: Mancuso, Michelangelo^{Aff1, IDs00415023120171_cor1}, Lopriore, Piervito, Lamperti, Costanza, Klopstock, Thomas^{Aff3, Aff4, Aff5}, Rahman, Shamima, Licchetta, Laura, Kornblum, Cornelia, Wortmann, Saskia B., Dollfus, Hélène, Papadopoulou, Maria T., Arzimanoglou, Alexis^{Aff11, Aff12}, Scarpa, Maurizio, Graessner, Holm, Evangelista, Teresinha

المصدر: Journal of Neurology. 271(2):835-840

المؤلفون: Morales-Romero, Blai, Muñoz-Pujol, Gerard, Artuch, Rafael, García-Cazorla, Angels, O'Callaghan, Mar, Sykut-Cegielska, Jolanta, Campistol, Jaume, Moreno-Lozano, Pedro Juan, Oud, Machteld M., Wevers, Ron A., Lefeber, Dirk J., Esteve-Codina, Anna, Yepez, Vicente A., Gagneur, Julien, Wortmann, Saskia B., Prokisch, Holger, Ribes, Antonia, García-Villoria, Judit, Tort, Frederic

المصدر: In Molecular Genetics and Metabolism July 2024 142(3)

المؤلفون: Grünert, Sarah C., Gautschi, Matthias, Baker, Joshua, Boyer, Monica, Burlina, Alberto, Casswall, Thomas, Corpeleijn, Willemijn, Çıki, Kismet, Cotter, Melanie, Crushell, Ellen, Derks, Terry G.J., Haas, Dorothea, Kilavuz, Sebile, Kingma, Sandra D.K., Korman, Stanley H., Kozek, Anne, de Laet, Corinne, Mundy, Helen, Nassogne, Marie Cecile, Quintero, Victor, Rossi, Alessandro, Spenger, Johannes, Spiegel, Ronen, Stephenne, Xavier, Stojkov, Darko, Tal, Galit, Veiga-da Cunha, Maria, Wortmann, Saskia B.

المصدر: In Molecular Genetics and Metabolism June 2024 142(2)

المؤلفون: Grünert, Sarah C., Derks, Terry G.J., Mundy, Helen, Dalton, R. Neil, Donadieu, Jean, Hofbauer, Peter, Jones, Neil, Uçar, Sema Kalkan, LaFreniere, Jamas, Contreras, Enrique Landelino, Pendyal, Surekha, Rossi, Alessandro, Schneider, Blair, Spiegel, Ronen, Stepien, Karolina M., Wesol-Kucharska, Dorota, Veiga-da-Cunha, Maria, Wortmann, Saskia B.

المصدر: In Molecular Genetics and Metabolism March 2024 141(3)

المؤلفون: Krenn, Martin, Sener, Merve, Rath, Jakob, Zulehner, Gudrun, Keritam, Omar, Wagner, Matias^{Aff2, Aff3}, Laccone, Franco, Iglseder, Stephan, Marte, Sonja, Baumgartner, Manuela, Eisenkölbl, Astrid, Liechtenstein, Christian, Rudnik, Sabine, Quasthoff, Stefan, Grinzinger, Susanne, Spenger, Johannes, Wortmann, Saskia B.^{Aff13, Aff14}, Löscher, Wolfgang N., Zimprich, Fritz, Kellersmann, Anna, Rappold, Mika, Bernert, Günther, Freilinger, Michael, Cetin, Hakan^{Aff1, IDs00415022114400_cor24}

المصدر: Journal of Neurology. 270(2):909-916

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المؤلفون: Hikmat, Omar, Isohanni, Pirjo, Keshavan, Nandaki, Ferla, Matteo P., Fassone, Elisa, Abbott, Mary Alice, Bellusci, Marcello, Darin, Niklas, Dimmock, David, Ghezzi, Daniele, Houlden, Henry, Invernizzi, Federica, Kamarus Jaman, Nazreen B., Kurian, Manju A., Morava, Eva, Naess, Karin, Ortigoza-Escobar, Juan Darío, Parikh, Sumit, Pennisi, Alessandra, Barcia, Giulia, Tylleskär, Karin B., Brackman, Damien, Wortmann, Saskia B., Taylor, Jenny C., Bindoff, Laurence A., Fellman, Vineta, Rahman, Shamima

المصدر: Annals of Clinical and Translational Neurology. 8(11):2155-2165

مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

URL الوصول: https://lup.lub.lu.se/record/91923fb2-2551-4bc0-b6e5-b9e54ab67190
http://dx.doi.org/10.1002/acn3.51470

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

المصدر: In Genetics in Medicine June 2023 25(6)

المؤلفون: Vaz, Frédéric M.^Aff6, Wortmann, Saskia B.^{Aff7, Aff8}, Mochel, Fanny^Aff9

المساهمون: Blau, Nenad, editor^Aff1, Dionisi Vici, Carlo, editor^Aff2, Ferreira, Carlos R., editor^Aff3, Vianey-Saban, Christine, editor^Aff4, van Karnebeek, Clara D. M., editor^Aff5

المصدر: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. :981-1025

المؤلفون: Wortmann, Saskia B.^{Aff6, Aff7}, Mayr, Johannes A.^Aff6

المساهمون: Blau, Nenad, editor^Aff1, Dionisi Vici, Carlo, editor^Aff2, Ferreira, Carlos R., editor^Aff3, Vianey-Saban, Christine, editor^Aff4, van Karnebeek, Clara D. M., editor^Aff5

المصدر: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. :1417-1430