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Displaying 3 results.
    • Journal article
    Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
    Paquay, Stéphanie[UCL] Bourillon, Agnès Pichard, Samia Benoist, Jean-François de Lonlay, Pascale Dobbelaere, Dries Fouilhoux, Alain Guffon, Nathalie Rouvet, Isabelle Labarthe, François Mention, Karine Touati, Guy Valayannopoulos, Vassili Ogier de Baulny, Hélène Elmaleh-Bergès, Monique Acquaviva-Bourdain, Cécile Vianey-Saban, Christine Schiff, Manuel (2017) Journal of Inherited Metabolic Disease — Vol. 40, no.3, p. 415-422 (2017)
    • Journal article
    Autosomal recessive primary microcephaly due to ASPM mutations: An update
    Létard, Pascaline Drunat, Séverine Vial, Yoann Duerinckx, Sarah Ernault, Anais Amram, Daniel Arpin, Stéphanie Bertoli, Marta Busa, Tiffany Ceulemans, Berten Desir, Julie Doco-Fenzy, Martine Elalaoui, Siham Chafai Devriendt, Koenraad Faivre, Laurence Francannet, Christine Geneviève, David Gérard, Marion Gitiaux, Cyril Julia, Sophie Lebon, Sébastien Lubala, Toni Mathieu-Dramard, Michèle Maurey, Hélène Metreau, Julia Nasserereddine, Sanaa Nizon, Mathilde Pierquin, Geneviève Pouvreau, Nathalie Rivier-Ringenbach, Clothilde Rossi, Massimiliano Schaefer, Elise Sefiani, Abdelaziz Sigaudy, Sabine Sznajer, Yves[UCL] Tunca, Yusuf Guilmin Crepon, Sophie Alberti, Corinne Elmaleh-Bergès, Monique Benzacken, Brigitte Wollnick, Bernd Woods, C. Geoffrey Rauch, Anita Abramowicz, Marc El Ghouzzi, Vincent Gressens, Pierre Verloes, Alain Passemard, Sandrine (2018) Human Mutation — Vol. 39, no. 3, p. 319-332 (2018)
    • Journal article
    SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
    Dewulf, Joseph P.[UCL] Wiame, Elsa[UCL] Dorboz, Imen Elmaleh-Bergès, Monique Imbard, Apolline Dumitriu, Dana Loana[UCL] Rak, Malgorzata Bourillon, Agnès Helaers, Raphaël[UCL] Malla, Alisha Renaldo, Florence Boespflug-Tanguy, Odile Vincent, Marie-Françoise[UCL] Benoist, Jean-François Wevers, Ron A Schlessinger, Avner Van Schaftingen, Emile[UCL] Nassogne, Marie-Cécile[UCL] Schiff, Manuel (2019) Annals of neurology — Vol. 85, no. 3, p. 385-395 (2019)