Stéphanie Gobin‐Limballe

Long-Term Follow-Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency

Jean‐Paul Bonnefont, Jean Bastin, Pascal Laforêt et al. · Clinical Pharmacology & Therapeutics · 2010 · 123 citations

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cyril Mignot, Aoife McMahon, Claire Bar et al. · Genetics in Medicine · 2018 · 57 citations · Full text

Epilepsy with migrating focal seizures

Giulia Barcia, Nicole Chémaly, Mathieu Kuchenbuch et al. · Neurology Genetics · 2019 · 50 citations · Full text

Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches

Stéphanie Gobin‐Limballe, R.P. McAndrew, Fatima Djouadi et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2010 · 32 citations

Missense Mutations, Aldehyde Dehydrogenase, Biochemistry +11

<scp>OTC</scp> deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort

Stéphanie Gobin‐Limballe, Chris Ottolenghi, Fabien Reyal et al. · Journal of Inherited Metabolic Disease · 2021 · 19 citations