Daniel Rabier

Arrhythmias and Conduction Defects as Presenting Symptoms of Fatty Acid Oxidation Disorders in Children

Damien Bonnet, Delphine Martin, Pascale de Lonlay et al. · Circulation · 1999 · 305 citations · Full text

Early Energy Deficit in Huntington Disease: Identification of a Plasma Biomarker Traceable during Disease Progression

Fanny Mochel, Perrine Charles, F. Seguin et al. · PLoS ONE · 2007 · 231 citations · Full text

Neurophysiological Biomarkers, Neurochemical Biomarkers, Metabolic Syndrome +19

Mevalonate Kinase Deficiency: A Survey of 50 Patients

Brigitte Bader‐Meunier, Benoît Florkin, Jean Sibilia et al. · PEDIATRICS · 2011 · 213 citations

Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.

Thomas Bourgeron, Dominique Chrétien, Jo Poggi-Bach et al. · Journal of Clinical Investigation · 1994 · 159 citations · Full text

Genetics, Pathology, Molecular Genetics +17

Clinical aspects of mitochondrial disorders

Arnold Münnich, Pierre Rustin, Agnès Rötig et al. · Journal of Inherited Metabolic Disease · 1992 · 154 citations