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Displaying 2 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
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
Yverneau, Mathilde Leroux, Stéphanie Imbard, Apolline Gleich, Florian Arion, Alina Moreau, Caroline Nassogne, Marie-Cécile[UCL] Szymanowski, Marie Tardieu, Marine Touati, Guy Bueno, María Chapman, Kimberly A Chien, Yin-Hsiu Huemer, Martina Ješina, Pavel Janssen, Mirian C H Kölker, Stefan Kožich, Viktor Lavigne, Christian Lund, Allan Meldgaard Mochel, Fanny Morris, Andrew Pons, Mónica Ruiz Porras-Hurtado, Gloria Liliana Benoist, Jean-François Damaj, Léna Schiff, Manuel E-HOD Consortium (2022) Journal of inherited metabolic disease — Vol. 45, no.4, p. 848-861 (2022)