A. Chabli

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

Adrien Jézégou, Elisa Llinares, Christine Anne et al. · Proceedings of the National Academy of Sciences · 2012 · 183 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +15

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

Charlotte Rigaud, Anne-Sophie Lèbre, Renaud Touraine et al. · Orphanet Journal of Rare Diseases · 2013 · 127 citations · Full text

Life Sciences, Cardiology, Genetics +12

Treatment by oral creatine, L‐arginine and L‐glycine in six severely affected patients with creatine transporter defect

Vassili Valayannopoulos, Nathalie Boddaert, A. Chabli et al. · Journal of Inherited Metabolic Disease · 2011 · 70 citations

Pharmacy, Pharmacotherapy, Renal Pharmacotherapy +5

Altered Gene Expression in Liver from a Murine Model of Hyperhomocysteinemia

Karine Robert, Jean-François Chassé, Dominique Santiard-Baron et al. · Journal of Biological Chemistry · 2003 · 60 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Methylenetetrahydrofolate Reductase Polymorphism in the Etiology of Down Syndrome

Bernadette Chadefaux-Vekemans, Marie Coudé, Françoise Müller et al. · Pediatric Research · 2002 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11