Jean‐François Benoist

Congenital Glutamine Deficiency with Glutamine Synthetase Mutations

Johannes Häberle, Boris Görg, Frank Rutsch et al. · New England Journal of Medicine · 2005 · 207 citations

Developmental Anomaly, Developmental Biology, Mendelian Disorder +13

Ketogenic diet exhibits anti‐inflammatory properties

Nina Dupuis, Niccolò Curatolo, Jean‐François Benoist et al. · Epilepsia · 2015 · 206 citations · Full text

Multiple OXPHOS Deficiency in the Liver, Kidney, Heart, and Skeletal Muscle of Patients With Methylmalonic Aciduria and Propionic Aciduria

Yves de Keyzer, Vassili Valayannopoulos, Jean‐François Benoist et al. · Pediatric Research · 2009 · 166 citations · Full text

Urology, Multiple Oxphos Deficiency, Methylmalonic Aciduria +8

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

Yair Anikster, Tobias B. Haack, Thierry Vilboux et al. · The American Journal of Human Genetics · 2017 · 149 citations · Full text

Genome Instability, Biallelic Mutations, Mendelian Disorder +8

Molecular basis of methylmalonyl‐CoA mutase apoenzyme defect in 40 European patients affected by <i>mut</i> ° and <i>mut</i> – forms of methylmalonic acidemia: Identification of 29 novel mutations in the MUT gene

Cécile Acquaviva, Jean‐François Benoist, Sabrina Bernárdez Pereira et al. · Human Mutation · 2005 · 107 citations

Mendelian Disorder, Genetic Disorder, Genetics +15