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Affichage: 3 résultats.
    • Article de périodique
    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
    Repp, Birgit M. Mastantuono, Elisa Alston, Charlotte L. Schiff, Manuel Haack, Tobias B. Rötig, Agnes Ardissone, Anna Lombès, Anne Catarino, Claudia B. Diodato, Daria Schottmann, Gudrun Poulton, Joanna Burlina, Alberto Jonckheere, An Munnich, Arnold Rolinski, Boris Ghezzi, Daniele Rokicki, Dariusz Wellesley, Diana Martinelli, Diego Wenhong, Ding Lamantea, Eleonora Ostergaard, Elsebet Pronicka, Ewa Pierre, Germaine Smeets, Hubert J. M. Wittig, Ilka Scurr, Ingrid de Coo, Irenaeus F. M. Moroni, Isabella Smet, Joél Mayr, Johannes A. Dai, Lifang de Meirleir, Linda Schuelke, Markus Zeviani, Massimo Morscher, Raphael J. McFarland, Robert Seneca, Sara Klopstock, Thomas Meitinger, Thomas Wieland, Thomas Strom, Tim M. Herberg, Ulrike Ahting, Uwe Sperl, Wolfgang Nassogne, Marie-Cécile[UCL] Ling, Han Fang, Fang Freisinger, Peter Van Coster, Rudy Strecker, Valentina Taylor, Robert W. Häberle, Johannes Vockley, Jerry Prokisch, Holger Wortmann, Saskia (2018) Orphanet Journal of Rare Diseases — Vol. 13, no. 1, p. 120 [1-10] (2018)
    • Article de périodique
    Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
    Blickhäuser, Beryll Stenton, Sarah L Neuhofer, Christiane M Floride, Elisa Nesbitt, Victoria Fratter, Carl Koch, Johannes Kauffmann, Birgit Catarino, Claudia Schlieben, Lea Dewi Kopajtich, Robert Carelli, Valerio Sadun, Alfredo A McFarland, Robert Fang, Fang La Morgia, Chiara Paquay, Stéphanie[UCL] Nassogne, Marie-Cécile[UCL] Ghezzi, Daniele Lamperti, Costanza Wortmann, Saskia Poulton, Jo Klopstock, Thomas Prokisch, Holger (2024) Brain — Vol. 147, no.6, p. 1967-1974 (2024)
    • 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)