Stéphanie Gobin

Defective <i>FA2H</i> leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

Michael C. Kruer, Coro Paisán‐Ruíz, Nathalie Boddaert et al. · Annals of Neurology · 2010 · 231 citations · Full text

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

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency

Laure Thuillier, Hidayeth Rostane, Véronique Droin et al. · Human Mutation · 2003 · 109 citations

Lcfa Oxidation, Metabolic Disorder, Genetics +20

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

Functional and Structural Basis of Carnitine Palmitoyltransferase 1A Deficiency

Stéphanie Gobin, Laure Thuillier, G. Jogl et al. · Journal of Biological Chemistry · 2003 · 81 citations · Full text