Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy

gan Jézégou, Adrien, Llinares, Elisa, Anne, Christine, Kieffer-Jaquinod, Sylvie, O’Regan, Seana, Aupetit, Joëlle, Chabli, Allel, Sagné, Corinne, Debacker, Cécile, Chadefaux-Vekemans, Bernadette, Journet, Agnès, André, Bruno, Gasnier, Bruno
Cyhoeddwyd 2012

Natural history of Barth syndrome: a national cohort study of 22 patients

gan Rigaud, Charlotte, Lebre, Anne-Sophie, Touraine, Renaud, Beaupain, Blandine, Ottolenghi, Chris, Chabli, Allel, Ansquer, Helene, Ozsahin, Hulya, Di Filippo, Sylvie, De Lonlay, Pascale, Borm, Betina, Rivier, Francois, Vaillant, Marie-Catherine, Mathieu-Dramard, Michèle, Goldenberg, Alice, Viot, Géraldine, Charron, Philippe, Rio, Marlene, Bonnet, Damien, Donadieu, Jean
Cyhoeddwyd 2013

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

gan Cheillan, David, Curt, Marie Joncquel-Chevalier, Briand, Gilbert, Salomons, Gajja S, Mention-Mulliez, Karine, Dobbelaere, Dries, Cuisset, Jean-Marie, Lion-François, Laurence, Portes, Vincent Des, Chabli, Allel, Valayannopoulos, Vassili, Benoist, Jean-François, Pinard, Jean-Marc, Simard, Gilles, Douay, Olivier, Deiva, Kumaran, Afenjar, Alexandra, Héron, Delphine, Rivier, François, Chabrol, Brigitte, Prieur, Fabienne, Cartault, François, Pitelet, Gaëlle, Goldenberg, Alice, Bekri, Soumeya, Gerard, Marion, Delorme, Richard, Tardieu, Marc, Porchet, Nicole, Vianey-Saban, Christine, Vamecq, Joseph
Cyhoeddwyd 2012