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Displaying 3 results.
    • Journal article
    Urgences métaboliques néonatales : convulsions
    Nassogne, Marie-Cecile[UCL] Debauche, C. Vincent, M. -F. (2012) Revue de médecine périnatale — Vol. 4, no.4, p. 220-224 (2012)
    • Journal article
    The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency
    Fatma Gokçay, Gulden Crushell, Ellen Ficicioglu, Can Ferreira, Carlos R Ferreira, Ana Cristina Falk, Marni J Distelmaier, Felix Dionisi-Vici, Carlo De Lonlay, Pascal Karaa, Amel Häberle, Johannes Janeiro, Patrícia Huemer, Martina Honzik, Tomas Hoffmann, Georg F Hoefele, Julia Hellenschmidt, Albrecht Heath, Oliver Lebigot, Elise Seher Kasapkara, Çiğdem Lamperti, Costanza Krumina, Zita Koch, Johannes Knerr, Ina Klopstock, Thomas Klepper, Joerg Kern, Ilse Oliveira, Anabela Liu, Zhimei Nassogne, Marie-Cecile[UCL] Mundy, Helen Molnar, Maria Judits Mendelsohn, Bryce McFarland, Robert Martinelli, Diego Maier, Esther M Rivera, Isabel Õunap, Katrin Repetto, Gabriela M Ramadža, Danijela P Plecko, Barbara Pichard, Samia Peters, Heidi Parikh, Sumit Panicucci, Chiara Striano, Pasquale Rodenburg, Richard J Steinbrucker, Katja Siri, Barbara Soares, Sérgia Smith, Wendy E Seidemann, Kathrin Schiff, Manuel Rossi, Alessandro Yildiz, Yilmaz Sykut-Cegielska, Jolanta Yaplito-Lee, Joy Woidy, Mathias van Konijnenburg, Eva Hoytema Kalkan Ucar, Sema Tsiakas, Kostas Taylor, Robert W Tal, Galit Wortmann, Saskia B Zenker, Martin Mayr, Johannes A Prokisch, Holger Brown, Garry K Meitinger, Thomas Sperl, Wolfgang Westphal, Dominik Zsidegh, Petra Merkevicius, Kajus Smirnov, Dmitrii Schlieben, Lea D Ganetzky, Rebecca Feichtinger, René G Jiang, Huafang Fang, Fang Ebihara, Tomohiro Murayama, Kei Ferrera, Giulia Ardissone, Anna Rokicki, Dariusz Wesol-Kucharska, Dorota Schröder, Sabine Bauer, Peter Bertoli-Avella, Aida Østergaard, Elsebeth Freisinger, Peter Janssen, Mirian C H Wagner, Matias Abouyousef, Omar Alhaddad, Bader AlAbdi, Lama Alkuraya, Fowzan Alston, Charlotte L Baghdasaryan, Anna Barca, Diana Barić, Ivo Bellusci, Marcello Bevot, Andrea Boltshauser, Eugen Borggraefe, Ingo Bouchereau, Juliette Bruno, Claudio Burnyte, Birute Calhoun, Amy Casas, Kari Coker, Mahmut (2025) Brain — (2025)
    • Journal article
    State of the art management practices for liver glycogen storage disorders: Results from an international survey among metabolic centres
    Grünert, Sarah C. Derks, Terry G.J. Rossi, Alessandro Al Sabti, Michaela Anderson, Katherine J. Baghdasaryan, Anna Bélanger-Quintana, Amaya Bourque, Danielle K. Boyer, Monica Bzdúch, Vladímír Casswall, Thomas Çoker, Mahmut Uçar, Sema Kalkan De Leon, Diva D. Heras, Javier De Las Diogo, Luisa Milosevic, Maja Djordjevic Engelbrecht, Louise Fazio, Timothy Feillet, François Gautschi, Matthias Grammatikopoulos, Tassos Groselj, Urh Haas, Dorothea Häberle, Johannes Hochuli, Michel Huemer, Martina Janeiro, Patricia Kang, Yunkoo Karall, Daniela Kasapkara, Çiğdem Seher Kaur, Shagun Kwok, Anne Mei-Kwun Labrune, Phillippe La Rosa, Alessandro Landau, Yuval E. Longo, Nicola Lotz-Havla, Amelie S. Lund, Allan Maiorana, Arianna Martín-Hernández, Elena Mitchell, John J. Möslinger, Dorothea Nassogne, Marie-Cecile[UCL] Neugebauer, Julia Park, Julien H. Parnarauskienė, Justė Pérez-Mohand, Patricia Procopio, Elena Reyes-Apodaca, Magali Santer, René Sapuppo, Annamaria Scholl-Bürgi, Sabine Scherer, Thomas Shayota, Brian J. Skouma, Anastasia Sreekantam, Srividya Steuerwald, Ulrike Thimm, Eva Moreno, Eva Venegas Weinstein, David A. Williams, Monika Witters, Peter Wortmann, Saskia B. Zeman, Jiří Zsidegh, Petra (2025) Molecular Genetics and Metabolism — Vol. 145, no.3, p. 109129 (2025)