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Affichage: 2 résultats.
    • Article de périodique
    Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up.
    Gorce, Magali Lebigot, Elise Arion, Alina Brassier, Anaïs Cano, Aline De Lonlay, Pascale Feillet, François Gay, Claire Labarthe, François Nassogne, Marie-Cécile[UCL] Roche, Sandrine Roubertie, Agathe Sacaze, Elise Touati, Guy Broué, Pierre (2022) Journal of inherited metabolic disease — Vol. 45, no. 2, p. 215-222 (2022)
    • Article de périodique
    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)