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- 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
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)