Jean-Marie Saudubray

Neurologic Outcomes of 90 Neonates and Infants With Persistent Hyperinsulinemic Hypoglycemia

Francesca Menni, Pascale de Lonlay, Caroline Sevin et al. · PEDIATRICS · 2001 · 344 citations

Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

Stefan Kölker, Sven F. Garbade, Cheryl R. Greenberg et al. · Pediatric Research · 2006 · 266 citations · Full text

Nutrition, Metabolic Disorder, Pediatric Hematology +8

Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy

Fanny Mochel, Pascale Delonlay, Guy Touati et al. · Molecular Genetics and Metabolism · 2005 · 136 citations

Metabolic Syndrome, Nutrition, Energy Metabolism +13

Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities

France Demaugre, Jean‐Paul Bonnefont, Grant Mitchell et al. · Pediatric Research · 1988 · 131 citations · Full text

Hepatology, Biochemistry, Muscular Presentations +8

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

Marie Coutelier, Cyril Goizet, Alexandra Dürr et al. · Brain · 2015 · 103 citations · Full text