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metabolic

  • Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
    Abdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj, Stéphanie Torre, Laur Domitille, Sarah Snanoudj, Benedicte Heron, Thierry Levade, Catherine Caillaud, Sabrina Vergnaud, Pascale Saugier-Veber, Sophie Coutant, Hélène Dranguet, Roseline Froissart, Majed Al Khouri, Yves Alembik, Julien Baruteau, Jean-Baptiste Arnoux, Anais Brassier, Anne-Claire Brehin, Tiffany Busa, Aline Cano, Brigitte Chabrol, Christine Coubes, Isabelle Desguerre, Martine Doco-Fenzy, Bernard Drenou, Nursel H Elcioglu, Solaf Elsayed, Alain Fouilhoux, Céline Poirsier, Alice Goldenberg, Philippe Jouvencel, Alice Kuster, François Labarthe, Leila Lazaro, Samia Pichard, Serge Rivera, Sandrine Roche, Stéphanie Roggerone, Agathe Roubertie, Sabine Sigaudy, Marta Spodenkiewicz, Marine Tardieu, Catherine Vanhulle, Stéphane Marret, Soumeya Bekri
    Journal of Medical Genetics Apr 2022, 59 (4) 377-384; DOI: 10.1136/jmedgenet-2020-107510
  • Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
    Alessandra Pennisi, Agnès Rötig, Charles-Joris Roux, Raphaël Lévy, Marco Henneke, Jutta Gärtner, Pelin Teke Kisa, Fatma Ceren Sarioglu, Uluç Yiş, Laura L Konczal, Deepika D Burkardt, Sulin Wu, Pauline Gaignard, Claude Besmond, Laurence Hubert, Marlène Rio, Giulia Barcia, Arnold Munnich, Nathalie Boddaert, Manuel Schiff
    Journal of Medical Genetics Feb 2022, 59 (2) 204-208; DOI: 10.1136/jmedgenet-2020-107367
  • High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency
    Isaure de Beaurepaire, David Grévent, Marlène Rio, Isabelle Desguerre, Pascale de Lonlay, Raphaël Levy, Volodia Dangouloff-Ros, Jean-Paul Bonnefont, Giulia Barcia, Benoit Funalot, Claude Besmond, Metodi D Metodiev, Benedetta Ruzzenente, Zahra Assouline, Arnold Munnich, Agnès Rötig, Nathalie Boddaert
    Journal of Medical Genetics Jun 2018, 55 (6) 378-383; DOI: 10.1136/jmedgenet-2017-105094