Daniel Rabier
Hôpital Necker-Enfants Malades(FR)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Diet and metabolism studies, Folate and B Vitamins Research, Amino Acid Enzymes and Metabolism
Most-Cited Works
- → Recognition and management of fatty acid oxidation defects: A series of 107 patients(1999)337 cited
- → Arrhythmias and Conduction Defects as Presenting Symptoms of Fatty Acid Oxidation Disorders in Children(1999)306 cited
- → Early Energy Deficit in Huntington Disease: Identification of a Plasma Biomarker Traceable during Disease Progression(2007)232 cited
- → Mevalonate Kinase Deficiency: A Survey of 50 Patients(2011)215 cited
- → Methylmalonic and propionic acidaemias: Management and outcome(2005)196 cited
- → Urea cycle defects: Management and outcome(2005)182 cited
- → Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.