Primary Hyperoxaluria

by Harambat, Jérôme, Fargue, Sonia, Bacchetta, Justine, Acquaviva, Cécile, Cochat, Pierre
Published 2011

Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene

by Chkioua, Latifa, Khedhiri, Souhir, Grissa, Oussama, Aloui, Chaker, Turkia, Hadhami Ben, Ferchichi, Salima, Miled, Abdelhedi, Froissart, Roseline, Acquaviva, Cecile, Laradi, Sandrine
Published 2015

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

by Nizon, Mathilde, Ottolenghi, Chris, Valayannopoulos, Vassili, Arnoux, Jean-Baptiste, Barbier, Valérie, Habarou, Florence, Desguerre, Isabelle, Boddaert, Nathalie, Bonnefont, Jean-Paul, Acquaviva, Cécile, Benoist, Jean-François, Rabier, Daniel, Touati, Guy, de Lonlay, Pascale
Published 2013