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Displaying 4 results.
    • Speech
    Transient neonatal polyuria and renal failure: New features of MEGDEL syndrome
    Paquay, Stéphanie[UCL] Harbulot, Carole Dorboz, Imen Pichard, Samia Bourillon, Agnès Benoist, Jean-François Jardel, Claude Ogier de Baulny, Hélène Boespflug-Tanguy, Odile Schiff, Manuel (2014) Society for the Study of Inborn Errors of Metabolism — Innsbruck, Austria
    • Journal article
    Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.
    Harbulot, Carole Paquay, Stéphanie[UCL] Dorboz, Imen Pichard, Samia Bourillon, Agnès Benoist, Jean-François Jardel, Claude Ogier de Baulny, Hélène Boespflug-Tanguy, Odile Schiff, Manuel (2016) Molecular Genetics and Metabolism Reports — Vol. 7, p. 8-10 (2016)
    • 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
    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)