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Displaying 3 results.
    • Journal article
    Genetic screening in thrombotic microangiopathy: a plea for methylmalonic aciduria with cobalamine C deficiency detection.
    Rafat, Cédric Doreille, Alice Dancer, Marine Wérion, Alexis[UCL] Benoist, Jean-François Raymond, Laure Mesnard, Laurent (2023) Clinical kidney journal — Vol. 16, no.11, p. 2299-2301 (2023)
    • 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)
    • 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)