B. Chabrol

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Craig M. McDonald, Craig Campbell, Ricardo Erazo Torricelli et al. · The Lancet · 2017 · 446 citations · Full text

Rare Diseases, Urology, Clinical Trials +5

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 406 citations · Full text

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

Marc Nicolino, Barry J. Byrne, J. Edmund Wraith et al. · Genetics in Medicine · 2009 · 290 citations · Full text

Pediatric Epidemiology, Clinical Epidemiology, Pediatrics +7

Persistent mitochondrial dysfunction in HIV-1-exposed but uninfected infants

Béatrice Barret, Marc Tardieu, Pierre Rustin et al. · AIDS · 2003 · 282 citations

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Stefan Kölker, Ángeles García Cazorla, Vassili Valayannopoulos et al. · Journal of Inherited Metabolic Disease · 2015 · 242 citations · Full text