Anaïs Brassier

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

Wladimir Mauhin, Florence Habarou, Stéphanie Gobin et al. · Orphanet Journal of Rare Diseases · 2017 · 111 citations · Full text

Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

Anaïs Brassier, Stéphanie Gobin, Jean Baptiste Arnoux et al. · Orphanet Journal of Rare Diseases · 2015 · 105 citations · Full text

Successful treatment of congenital hyperinsulinism with long-acting release octreotide

Kim‐Hanh Le Quan Sang, Jean‐Baptiste Arnoux, Asmaa Mamoune et al. · European Journal of Endocrinology · 2011 · 88 citations · Full text

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study

Simon Jones, Sandra Rojas-Caro, Anthony Quinn et al. · Orphanet Journal of Rare Diseases · 2017 · 85 citations · Full text

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

Roland Posset, Ángeles García‐Cazorla, Vassili Valayannopoulos et al. · Journal of Inherited Metabolic Disease · 2016 · 74 citations · Full text